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Items: 1 to 50 of 220

1.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.

EMBO J. 2018 Nov 12. pii: e100540. doi: 10.15252/embj.2018100540. [Epub ahead of print]

PMID:
30420557
2.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faive L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6.

3.

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Villemeur TB, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 Oct 26;14(10):e1007748. doi: 10.1371/journal.pgen.1007748. eCollection 2018 Oct.

4.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2018 Oct 25. doi: 10.1038/s41436-018-0339-3. [Epub ahead of print]

PMID:
30356099
5.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

PMID:
30351409
6.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.

PMID:
30343943
7.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002. No abstract available.

8.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Oct 2. doi: 10.1038/s41436-018-0327-7. [Epub ahead of print]

PMID:
30279470
9.

Correction: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2018 Sep 27. doi: 10.1038/s41436-018-0325-9. [Epub ahead of print]

PMID:
30262923
10.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Sep 12. doi: 10.1038/s41436-018-0268-1. [Epub ahead of print] Erratum in: Genet Med. 2018 Oct 2;:.

PMID:
30206421
11.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.

Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.

PMID:
30167850
12.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A.

Genet Med. 2018 Aug 31. doi: 10.1038/s41436-018-0143-0. [Epub ahead of print]

PMID:
30166628
13.

Correction to: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin AS, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2018 Aug 29. doi: 10.1038/s41436-018-0284-1. [Epub ahead of print]

PMID:
30158694
14.

Dynamic Risk Stratification in the Follow-Up of Children and Adolescents with Differentiated Thyroid Cancer.

Zanella AB, Scheffel RS, Nava CF, Golbert L, Laurini de Souza Meyer E, Punales M, Gonçalves I, Dora JM, Maia AL.

Thyroid. 2018 Oct;28(10):1285-1292. doi: 10.1089/thy.2018.0075.

PMID:
30129889
15.

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

Koy A, Cirak S, Gonzalez V, Becker K, Roujeau T, Milesi C, Baleine J, Cambonie G, Boularan A, Greco F, Perrigault PF, Cances C, Dorison N, Doummar D, Roubertie A, Beroud C, Körber F, Stüve B, Waltz S, Mignot C, Nava C, Maarouf M, Coubes P, Cif L.

J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22.

PMID:
30103967
16.

The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2018 Aug 10. doi: 10.1038/s41436-018-0060-2. [Epub ahead of print] Erratum in: Genet Med. 2018 Aug 29;:. Genet Med. 2018 Sep 27;:.

PMID:
30093711
17.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C.

Brain. 2018 Jul 9. doi: 10.1093/brain/awy173. [Epub ahead of print]

PMID:
29985992
18.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL.

Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.

19.

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.

Landoulsi Z, Laatar F, Noé E, Mrabet S, Ben Djebara M, Achaz G, Nava C, Baulac S, Kacem I, Gargouri-Berrechid A, Gouider R, Leguern E.

Neurogenetics. 2018 Aug;19(3):165-178. doi: 10.1007/s10048-018-0550-z. Epub 2018 Jun 12.

PMID:
29948376
20.

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

Marzin P, Mignot C, Dorison N, Dufour L, Ville D, Kaminska A, Panagiotakaki E, Dienpendaele AS, Penniello MJ, Nougues MC, Keren B, Depienne C, Nava C, Milh M, Villard L, Richelme C, Rivier C, Whalen S, Heron D, Lesca G, Doummar D.

Brain Dev. 2018 Oct;40(9):768-774. doi: 10.1016/j.braindev.2018.05.008. Epub 2018 May 31.

PMID:
29861155
21.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May. Erratum in: PLoS Genet. 2018 Oct 26;14(10):e1007748.

22.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Erratum in: Am J Hum Genet. 2018 Oct 4;103(4):631.

23.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G.

Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17.

PMID:
29574747
24.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.

PMID:
29511999
25.

Inter-sexual habitat and isotopic niche segregation of the endangered Monteiro's storm-petrel during breeding.

Paiva VH, Ramos JA, Nava C, Neves V, Bried J, Magalhães M.

Zoology (Jena). 2018 Feb;126:29-35. doi: 10.1016/j.zool.2017.12.006. Epub 2017 Dec 30.

PMID:
29352679
26.

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.

Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.

PMID:
29315614
27.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA.

Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5.

PMID:
29209020
28.

Reduced population size does not affect the mating strategy of a vulnerable and endemic seabird.

Nava C, Neves VC, Andris M, Dubois MP, Jarne P, Bolton M, Bried J.

Naturwissenschaften. 2017 Nov 15;104(11-12):103. doi: 10.1007/s00114-017-1523-z.

PMID:
29143134
29.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

30.

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW; IRC5 Consortium, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ.

Hum Mutat. 2018 Jan;39(1):23-39. doi: 10.1002/humu.23361. Epub 2017 Nov 11. Review.

PMID:
29068161
31.

Development of the Italian version of the trunk impairment scale in subjects with acute and chronic stroke. Cross-cultural adaptation, reliability, validity and responsiveness.

Monticone M, Ambrosini E, Verheyden G, Brivio F, Brunati R, Longoni L, Mauri G, Molteni A, Nava C, Rocca B, Ferrante S.

Disabil Rehabil. 2017 Sep 10:1-8. doi: 10.1080/09638288.2017.1373409. [Epub ahead of print]

PMID:
28891352
32.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study, Suri M, Elmslie F; Deciphering Developmental Disorders Study, Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ.

Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.

33.

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O.

Am J Hum Genet. 2017 Aug 3;101(2):267-273. doi: 10.1016/j.ajhg.2017.07.002.

34.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C.

Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.

PMID:
28708303
35.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373
36.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D.

J Pediatr. 2017 Jun;185:160-166.e1. doi: 10.1016/j.jpeds.2017.02.023. Epub 2017 Mar 8.

PMID:
28284480
37.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.

Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.

38.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C.

Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.

39.

Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.

Atsem S, Reichenbach J, Potabattula R, Dittrich M, Nava C, Depienne C, Böhm L, Rost S, Hahn T, Schorsch M, Haaf T, El Hajj N.

Hum Mol Genet. 2016 Nov 15;25(22):4996-5005. doi: 10.1093/hmg/ddw328.

40.

Can FES-Augmented Active Cycling Training Improve Locomotion in Post-Acute Elderly Stroke Patients?

Peri E, Ambrosini E, Pedrocchi A, Ferrigno G, Nava C, Longoni V, Monticone M, Ferrante S.

Eur J Transl Myol. 2016 Jun 13;26(3):6063. eCollection 2016 Jun 13.

41.

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, Faudet A, Lesne F, Bienvenu T, Alby C, Attié-Bitach T, Depienne C, Nava C, Héron D.

Brain. 2016 Nov 1;139(11):e64. doi: 10.1093/brain/aww181. No abstract available.

PMID:
27474218
42.

Pitfalls in genetic testing: the story of missed SCN1A mutations.

Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A; EuroEPINOMICS‐RES Dravet working group.

Mol Genet Genomic Med. 2016 Apr 14;4(4):457-64. doi: 10.1002/mgg3.217. eCollection 2016 Jul.

43.

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M.

Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1.

PMID:
27368338
44.

Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome.

Darville H, Poulet A, Rodet-Amsellem F, Chatrousse L, Pernelle J, Boissart C, Héron D, Nava C, Perrier A, Jarrige M, Cogé F, Millan MJ, Bourgeron T, Peschanski M, Delorme R, Benchoua A.

EBioMedicine. 2016 Jul;9:293-305. doi: 10.1016/j.ebiom.2016.05.032. Epub 2016 May 27.

45.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.

Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6.

46.

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C.

Hum Mutat. 2016 Aug;37(8):755-64. doi: 10.1002/humu.23001. Epub 2016 May 4.

47.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C.

J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. Erratum in: J Med Genet. 2016 Oct;53(10):720.

PMID:
26989088
48.

Hyaluronic acid intra-articular injection and exercise therapy: effects on pain and disability in subjects affected by lower limb joints osteoarthritis. A systematic review by the Italian Society of Physical and Rehabilitation Medicine (SIMFER).

Monticone M, Frizziero A, Rovere G, Vittadini F, Uliano D, LA Bruna S, Gatto R, Nava C, Leggero V, Masiero S.

Eur J Phys Rehabil Med. 2016 Jun;52(3):389-99. Epub 2015 Sep 10. Review.

49.

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, Laurent C, Lebrun N, Guillemot V, Chelly J, Cohen D, Héron D, Brice A, Closs EI, Depienne C.

Amino Acids. 2015 Dec;47(12):2647-58. doi: 10.1007/s00726-015-2057-3. Epub 2015 Jul 28.

50.

Measurement properties of translated versions of the Scoliosis Research Society-22 Patient Questionnaire, SRS-22: a systematic review.

Monticone M, Nava C, Leggero V, Rocca B, Salvaderi S, Ferrante S, Ambrosini E.

Qual Life Res. 2015 Aug;24(8):1981-98. doi: 10.1007/s11136-015-0935-5. Epub 2015 Feb 15. Review.

PMID:
25682366

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