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Items: 1 to 50 of 101

1.

The repertoire of seizure onset patterns in human focal epilepsies: Determinants and prognostic values.

Lagarde S, Buzori S, Trebuchon A, Carron R, Scavarda D, Milh M, McGonigal A, Bartolomei F.

Epilepsia. 2018 Nov 13. doi: 10.1111/epi.14604. [Epub ahead of print]

PMID:
30426477
2.

Screening for depression in youth with epilepsy: The NDDI-E-Y.

McGonigal A, Micoulaud-Franchi JA, Villeneuve N, Lepine A, Viellard M, Milh M.

Epilepsia. 2018 Oct;59(10):1999-2000. doi: 10.1111/epi.14545. No abstract available.

PMID:
30368787
3.

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
4.

Diadenosine-Polyphosphate Analogue AppCH2ppA Suppresses Seizures by Enhancing Adenosine Signaling in the Cortex.

Pons-Bennaceur A, Tsintsadze V, Bui TT, Tsintsadze T, Minlebaev M, Milh M, Scavarda D, Giniatullin R, Giniatullina R, Shityakov S, Wright M, Miller AD, Lozovaya N, Burnashev N.

Cereb Cortex. 2018 Oct 6. doi: 10.1093/cercor/bhy257. [Epub ahead of print]

PMID:
30295710
5.

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
6.

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
7.

Tailored suprainsular partial hemispherotomy: a new functional disconnection technique for stroke-induced refractory epilepsy.

Scavarda D, Cavalcante T, Trébuchon A, Lépine A, Villeneuve N, Girard N, McGonigal A, Milh M, Bartolomei F.

J Neurosurg Pediatr. 2018 Aug 24:1-9. doi: 10.3171/2018.5.PEDS17709. [Epub ahead of print]

PMID:
30141751
8.

Interictal stereotactic-EEG functional connectivity in refractory focal epilepsies.

Lagarde S, Roehri N, Lambert I, Trebuchon A, McGonigal A, Carron R, Scavarda D, Milh M, Pizzo F, Colombet B, Giusiano B, Medina Villalon S, Guye M, Bénar CG, Bartolomei F.

Brain. 2018 Oct 1;141(10):2966-2980. doi: 10.1093/brain/awy214.

PMID:
30107499
9.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L.

Genet Med. 2018 Jul 12. doi: 10.1038/s41436-018-0089-2. [Epub ahead of print]

PMID:
29997391
10.

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
11.

Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures.

Franz DN, Lawson JA, Yapici Z, Brandt C, Kohrman MH, Wong M, Milh M, Wiemer-Kruel A, Voi M, Coello N, Cheung W, Grosch K, French JA.

Epilepsia. 2018 Jun;59(6):1188-1197. doi: 10.1111/epi.14085. Epub 2018 May 4.

12.

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Mignon-Ravix C, Milh M, Kaiser CS, Daniel J, Riccardi F, Cacciagli P, Nagara M, Busa T, Liebau E, Villard L.

Hum Mutat. 2018 Jul;39(7):934-938. doi: 10.1002/humu.23534. Epub 2018 May 3.

PMID:
29663568
13.

[Adaptive functioning in adults with intellectual deficiency: Role of skills during childhood, age, and IQ in a preliminary study of 16 adults].

Minguez A, Milh M.

Arch Pediatr. 2018 Apr;25(3):182-188. doi: 10.1016/j.arcped.2018.02.002. Epub 2018 Mar 16. French.

PMID:
29551474
14.

The role of stereoelectroencephalography (SEEG) in reevaluation of epilepsy surgery failures.

Vaugier L, Lagarde S, McGonigal A, Trébuchon A, Milh M, Lépine A, Scavarda D, Carron R, Bartolomei F.

Epilepsy Behav. 2018 Apr;81:86-93. doi: 10.1016/j.yebeh.2018.02.005. Epub 2018 Mar 8.

PMID:
29526579
15.

Urinary retention associated with aripiprazole: Report of a new case and review of the literature.

Boyer MG, Kheloufi F, Denis J, Micallef J, Milh M.

Therapie. 2018 May - Jun;73(3):287-289. doi: 10.1016/j.therap.2017.09.001. Epub 2017 Oct 23. No abstract available.

PMID:
29146041
16.

A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.

Devaux J, Dhifallah S, De Maria M, Stuart-Lopez G, Becq H, Milh M, Molinari F, Aniksztejn L.

Epilepsia. 2017 Dec;58(12):2073-2084. doi: 10.1111/epi.13927. Epub 2017 Oct 25.

PMID:
29067685
17.

[Evaluating a child after a febrile seizure: Insights on three important issues].

Auvin S, Antonios M, Benoist G, Dommergues MA, Corrard F, Gajdos V, Gras Leguen C, Launay E, Salaün A, Titomanlio L, Vallée L, Milh M.

Arch Pediatr. 2017 Nov;24(11):1137-1146. doi: 10.1016/j.arcped.2017.08.018. Epub 2017 Sep 29. French.

PMID:
28965695
18.

Early patterns of activity in the developing cortex: Focus on the sensorimotor system.

Khazipov R, Milh M.

Semin Cell Dev Biol. 2018 Apr;76:120-129. doi: 10.1016/j.semcdb.2017.09.014. Epub 2017 Sep 9. Review.

PMID:
28899717
19.

[How to deal with a fetal head circumference lower than the third percentile?]

Mace P, Milh M, Girard N, Sigaudy S, Quarello E.

Gynecol Obstet Fertil Senol. 2017 Sep;45(9):491-511. doi: 10.1016/j.gofs.2017.07.004. Epub 2017 Sep 1. French.

PMID:
28870427
20.

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

Ovaert C, Busa T, Faure E, Missirian C, Philip N, Paoli F, Milh M, Macé L, Zaffran S.

Am J Med Genet A. 2017 Sep;173(9):2489-2493. doi: 10.1002/ajmg.a.38331. Epub 2017 Jun 28.

PMID:
28657660
21.

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Villeneuve N, Abidi A, Cacciagli P, Mignon-Ravix C, Chabrol B, Villard L, Milh M.

Eur J Paediatr Neurol. 2017 Sep;21(5):783-786. doi: 10.1016/j.ejpn.2017.04.001. Epub 2017 Apr 29.

PMID:
28506426
22.

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
23.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J.

Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23.

24.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.

Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.

25.

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.

26.

Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

Spitz MA, Nguyen MA, Roche S, Heron B, Milh M, de Lonlay P, Lion-François L, Testard H, Napuri S, Barth M, Fournier-Favre S, Christa L, Vianey-Saban C, Corne C, Roubertie A.

JIMD Rep. 2017;31:85-93. doi: 10.1007/8904_2016_550. Epub 2016 May 5.

27.

Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study.

Lagarde S, Villeneuve N, Trébuchon A, Kaphan E, Lepine A, McGonigal A, Roubertie A, Barthez MA, Trommsdorff V, Lefranc J, Wehbi S, des Portes V, Laguitton V, Quartier P, Scavarda D, Giusiano B, Milh M, Bulteau C, Bartolomei F.

Epilepsia. 2016 Jun;57(6):956-66. doi: 10.1111/epi.13387. Epub 2016 Apr 22.

28.

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.

Chipaux M, Szurhaj W, Vercueil L, Milh M, Villeneuve N, Cances C, Auvin S, Chassagnon S, Napuri S, Allaire C, Derambure P, Marchal C, Caubel I, Ricard-Mousnier B, N'Guyen The Tich S, Pinard JM, Bahi-Buisson N, de Baracé C, Kahane P, Gautier A, Hamelin S, Coste-Zeitoun D, Rosenberg SD, Clerson P, Nabbout R, Kuchenbuch M, Picot MC, Kaminska A; GRENAT Group.

Epilepsia. 2016 May;57(5):757-69. doi: 10.1111/epi.13368. Epub 2016 Apr 1.

29.

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

Devaux J, Abidi A, Roubertie A, Molinari F, Becq H, Lacoste C, Villard L, Milh M, Aniksztejn L.

Epilepsia. 2016 May;57(5):e87-93. doi: 10.1111/epi.13366. Epub 2016 Mar 31.

30.

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Milh M, Cacciagli P, Ravix C, Badens C, Lépine A, Villeneuve N, Villard L.

Rev Neurol (Paris). 2016 Mar;172(3):171-3. doi: 10.1016/j.neurol.2016.02.005. Epub 2016 Mar 15. Review.

PMID:
26993565
31.

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

Di Meglio C, Bonello-Palot N, Boulay C, Milh M, Ovaert C, Levy N, Chabrol B.

Brain Dev. 2016 May;38(5):498-506. doi: 10.1016/j.braindev.2015.11.006. Epub 2015 Dec 10.

PMID:
26686600
32.

Cerebral (18)FluoroDeoxy-Glucose Positron Emission Tomography in paediatric anti N-methyl-D-aspartate receptor encephalitis: A case series.

Lagarde S, Lepine A, Caietta E, Pelletier F, Boucraut J, Chabrol B, Milh M, Guedj E.

Brain Dev. 2016 May;38(5):461-70. doi: 10.1016/j.braindev.2015.10.013. Epub 2015 Nov 2.

PMID:
26542469
33.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M.

Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29.

34.

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

Abidi A, Mignon-Ravix C, Cacciagli P, Girard N, Milh M, Villard L.

Eur J Hum Genet. 2016 Apr;24(4):615-8. doi: 10.1038/ejhg.2015.159. Epub 2015 Jul 15.

35.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

Abidi A, Devaux JJ, Molinari F, Alcaraz G, Michon FX, Sutera-Sardo J, Becq H, Lacoste C, Altuzarra C, Afenjar A, Mignot C, Doummar D, Isidor B, Guyen SN, Colin E, De La Vaissière S, Haye D, Trauffler A, Badens C, Prieur F, Lesca G, Villard L, Milh M, Aniksztejn L.

Neurobiol Dis. 2015 Aug;80:80-92. doi: 10.1016/j.nbd.2015.04.017. Epub 2015 May 22.

PMID:
26007637
36.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L.

Am J Med Genet A. 2015 Oct;167A(10):2314-8. doi: 10.1002/ajmg.a.37152. Epub 2015 May 10.

PMID:
25959266
37.

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A.

Neurology. 2015 Apr 28;84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3.

PMID:
25841024
38.

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G.

Epilepsy Res. 2015 Mar;111:72-7. doi: 10.1016/j.eplepsyres.2015.01.008. Epub 2015 Jan 25.

PMID:
25769375
39.

[Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome].

Barraud C, Cano A, Boulay C, Milh M, Bollini G, Chabrol B.

Arch Pediatr. 2015 Apr;22(4):414-7. doi: 10.1016/j.arcped.2015.01.011. Epub 2015 Mar 6. French.

PMID:
25753274
40.

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Des Portes V, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Singh Amrathlal R, Rochette J, Roubertie A.

J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16.

PMID:
25595153
41.

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N.

Eur J Paediatr Neurol. 2015 Mar;19(2):188-92. doi: 10.1016/j.ejpn.2014.11.012. Epub 2014 Dec 16.

PMID:
25549896
42.

Cortical involvement in focal epilepsies with epileptic spasms.

de la Vaissière S, Milh M, Scavarda D, Carron R, Lépine A, Trébuchon A, Gavaret M, Hewett R, Laguitton V, Daquin G, Villeneuve N, Bartolomei F.

Epilepsy Res. 2014 Nov;108(9):1572-80. doi: 10.1016/j.eplepsyres.2014.08.008. Epub 2014 Aug 30.

PMID:
25212728
43.

Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model.

Lozovaya N, Gataullina S, Tsintsadze T, Tsintsadze V, Pallesi-Pocachard E, Minlebaev M, Goriounova NA, Buhler E, Watrin F, Shityakov S, Becker AJ, Bordey A, Milh M, Scavarda D, Bulteau C, Dorfmuller G, Delalande O, Represa A, Cardoso C, Dulac O, Ben-Ari Y, Burnashev N.

Nat Commun. 2014 Aug 1;5:4563. doi: 10.1038/ncomms5563.

44.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB.

Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006.

45.

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L.

Am J Med Genet A. 2014 Aug;164A(8):1991-7. doi: 10.1002/ajmg.a.36602. Epub 2014 May 9.

PMID:
24817631
46.

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome.

Villeneuve N, Laguitton V, Viellard M, Lépine A, Chabrol B, Dravet C, Milh M.

Epilepsy Behav. 2014 Feb;31:143-8. doi: 10.1016/j.yebeh.2013.11.021. Epub 2014 Jan 8.

PMID:
24412860
47.

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