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Items: 1 to 50 of 397

1.

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S.

Neurol Genet. 2018 Dec 6;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec.

2.

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.

Cowley MJ, Liu YC, Oliver KL, Carvill G, Myers CT, Gayevskiy V, Delatycki M, Vlaskamp DRM, Zhu Y, Mefford H, Buckley MF, Bahlo M, Scheffer IE, Dinger ME, Roscioli T.

Hum Mutat. 2018 Dec 17. doi: 10.1002/humu.23699. [Epub ahead of print]

PMID:
30556619
3.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE.

Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12.

PMID:
30541864
4.

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC.

Am J Hum Genet. 2018 Dec 6;103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023.

PMID:
30526861
5.

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP.

Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029.

6.

Efficacy of cannabinoids in paediatric epilepsy.

Ali S, Scheffer IE, Sadleir LG.

Dev Med Child Neurol. 2019 Jan;61(1):13-18. doi: 10.1111/dmcn.14087. Epub 2018 Nov 6. Review.

PMID:
30402932
7.

Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study.

Myers KA, Davey MJ, Ching M, Ellis C, Grinton BE, Roten A, Lightfoot PA, Scheffer IE.

J Clin Sleep Med. 2018 Oct 15;14(10):1697-1704. doi: 10.5664/jcsm.7376.

PMID:
30353809
8.

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
9.

The Key to FAME: Intronic Repeat Expansions Cause Human Epilepsies.

Scheffer IE.

Epilepsy Curr. 2018 Jul-Aug;18(4):238-239. doi: 10.5698/1535-7597.18.4.238. No abstract available.

10.

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH.

Pediatr Neurol. 2018 Oct;87:48-56. doi: 10.1016/j.pediatrneurol.2018.04.012. Epub 2018 May 7.

PMID:
30174244
11.

The phenotype of SCN8A developmental and epileptic encephalopathy.

Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS.

Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31.

PMID:
30171078
12.

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Nov;147:121. doi: 10.1016/j.eplepsyres.2018.07.019. Epub 2018 Aug 10. No abstract available.

PMID:
30104120
13.

Therapeutic use of medicinal cannabis in difficult to manage epilepsy.

Lawson JA, Scheffer IE.

Br J Clin Pharmacol. 2018 Nov;84(11):2488-2490. doi: 10.1111/bcp.13711. Epub 2018 Sep 5. Review. No abstract available.

PMID:
30088286
14.

Genetic literacy series: genetic epilepsy with febrile seizures plus.

Myers KA, Scheffer IE, Berkovic SF; ILAE Genetics Commission.

Epileptic Disord. 2018 Aug 1;20(4):232-238. doi: 10.1684/epd.2018.0985. Review.

PMID:
30078767
15.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

PMID:
30057029
16.

Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism Phenotype.

Yap VMZ, McLachlan NM, Scheffer IE, Wilson SJ.

J Autism Dev Disord. 2018 Nov;48(11):3899-3911. doi: 10.1007/s10803-018-3641-7.

PMID:
29934730
17.

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J.

Mol Psychiatry. 2018 Jun 11. doi: 10.1038/s41380-018-0066-9. [Epub ahead of print] Review.

PMID:
29892053
18.

Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group.

Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Cross JH, Dahlin MG, Donner EJ, Guzel O, Jehle RS, Klepper J, Kang HC, Lambrechts DA, Liu YMC, Nathan JK, Nordli DR Jr, Pfeifer HH, Rho JM, Scheffer IE, Sharma S, Stafstrom CE, Thiele EA, Turner Z, Vaccarezza MM, van der Louw EJTM, Veggiotti P, Wheless JW, Wirrell EC; Charlie Foundation; Matthew's Friends; Practice Committee of the Child Neurology Society.

Epilepsia Open. 2018 May 21;3(2):175-192. doi: 10.1002/epi4.12225. eCollection 2018 Jun.

19.

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk.

Myers KA, Bello-Espinosa LE, Symonds JD, Zuberi SM, Clegg R, Sadleir LG, Buchhalter J, Scheffer IE.

Epilepsia. 2018 Jul;59(7):1372-1380. doi: 10.1111/epi.14438. Epub 2018 Jun 6.

PMID:
29873813
20.

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.

Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Oliva MK, Kaplan D, Scheffer IE, Berkovic SF, Petrou S.

Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):E5516-E5525. doi: 10.1073/pnas.1800077115. Epub 2018 May 29.

21.

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.

Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC; Victorian Severe Epilepsy of Infancy Study Group, Scheffer IE, Harvey AS.

Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11.

PMID:
29750358
22.

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

Hildebrand MS, Harvey AS, Malone S, Damiano JA, Do H, Ye Z, McQuillan L, Maixner W, Kalnins R, Nolan B, Wood M, Ozturk E, Jones NC, Gillies G, Pope K, Lockhart PJ, Dobrovic A, Leventer RJ, Scheffer IE, Berkovic SF.

Neurol Genet. 2018 May 1;4(3):e236. doi: 10.1212/NXG.0000000000000236. eCollection 2018 Jun.

23.

Epilepsy.

Devinsky O, Vezzani A, O'Brien TJ, Jette N, Scheffer IE, de Curtis M, Perucca P.

Nat Rev Dis Primers. 2018 May 3;4:18024. doi: 10.1038/nrdp.2018.24. Review.

PMID:
29722352
24.

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, King C, Lacroix A, Mehaffey MG, Berkovic SF, Carvill GL, Sadleir LG, Scheffer IE, Mefford HC.

N Engl J Med. 2018 Apr 26;378(17):1646-1648. doi: 10.1056/NEJMc1714579. No abstract available.

25.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G.

Ann Neurol. 2018 May;83(5):926-934. doi: 10.1002/ana.25222. Epub 2018 Apr 30.

PMID:
29630738
26.

The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know?

Brodie MJ, Zuberi SM, Scheffer IE, Fisher RS.

Epileptic Disord. 2018 Apr 1;20(2):77-87. doi: 10.1684/epd.2018.0957.

PMID:
29620013
27.

The ventrolateral medulla and medullary raphe in sudden unexpected death in epilepsy.

Patodia S, Somani A, O'Hare M, Venkateswaran R, Liu J, Michalak Z, Ellis M, Scheffer IE, Diehl B, Sisodiya SM, Thom M.

Brain. 2018 Jun 1;141(6):1719-1733. doi: 10.1093/brain/awy078.

28.

The management of epilepsy in children and adults.

Perucca P, Scheffer IE, Kiley M.

Med J Aust. 2018 Mar 19;208(5):226-233.

PMID:
29540143
29.

A case series of lacosamide as adjunctive therapy in refractory sleep-related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy).

Samarasekera SR, Berkovic SF, Scheffer IE.

J Sleep Res. 2018 Oct;27(5):e12669. doi: 10.1111/jsr.12669. Epub 2018 Feb 25.

PMID:
29479765
30.

Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study.

Myers KA, Lightfoot P, Patil SG, Cross JH, Scheffer IE.

Dev Med Child Neurol. 2018 Jun;60(6):574-578. doi: 10.1111/dmcn.13704. Epub 2018 Feb 23.

PMID:
29473155
31.

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Eising E, Carrion-Castillo A, Vino A, Strand EA, Jakielski KJ, Scerri TS, Hildebrand MS, Webster R, Ma A, Mazoyer B, Francks C, Bahlo M, Scheffer IE, Morgan AT, Shriberg LD, Fisher SE.

Mol Psychiatry. 2018 Feb 20. doi: 10.1038/s41380-018-0020-x. [Epub ahead of print]

PMID:
29463886
32.

Hemiconvulsion-hemiplegia-epilepsy evolving to contralateral hemi-Lennox-Gastaut-like phenotype.

Myers KA, Scheffer IE, Archer JS.

Brain Dev. 2018 May;40(5):425-428. doi: 10.1016/j.braindev.2018.01.005. Epub 2018 Feb 16.

PMID:
29459061
33.

The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy.

Villaluz MM, Lomax LB, Jadhav T, Cross JH, Scheffer IE.

Dev Med Child Neurol. 2018 Jul;60(7):718-723. doi: 10.1111/dmcn.13687. Epub 2018 Feb 16.

PMID:
29451698
34.

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014. Epub 2018 Feb 3. Erratum in: Epilepsy Res. 2018 Aug 10;:.

PMID:
29367179
35.

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

Myers KA, McGlade A, Neubauer BA, Lal D, Berkovic SF, Scheffer IE, Hildebrand MS.

PLoS One. 2018 Jan 19;13(1):e0191546. doi: 10.1371/journal.pone.0191546. eCollection 2018.

36.

Myoclonic absence seizures with complex gestural automatisms.

Myers KA, Scheffer IE.

Eur J Paediatr Neurol. 2018 May;22(3):532-535. doi: 10.1016/j.ejpn.2017.12.003. Epub 2017 Dec 19.

PMID:
29325826
37.

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.

Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ.

Neuron. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005.

38.

ADGRV1 is implicated in myoclonic epilepsy.

Myers KA, Nasioulas S, Boys A, McMahon JM, Slater H, Lockhart P, Sart DD, Scheffer IE.

Epilepsia. 2018 Feb;59(2):381-388. doi: 10.1111/epi.13980. Epub 2017 Dec 20.

PMID:
29266188
39.

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Oyrer J, Maljevic S, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Pharmacol Rev. 2018 Jan;70(1):142-173. doi: 10.1124/pr.117.014456. Review.

40.

A new classification and class 1 evidence transform clinical practice in epilepsy.

Scheffer IE.

Lancet Neurol. 2018 Jan;17(1):7-8. doi: 10.1016/S1474-4422(17)30432-5. Epub 2017 Dec 16. No abstract available.

PMID:
29263009
41.

The new definition and classification of seizures and epilepsy.

Falco-Walter JJ, Scheffer IE, Fisher RS.

Epilepsy Res. 2018 Jan;139:73-79. doi: 10.1016/j.eplepsyres.2017.11.015. Epub 2017 Nov 28. Review.

PMID:
29197668
42.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.

McTague A, Nair U, Malhotra S, Meyer E, Trump N, Gazina EV, Papandreou A, Ngoh A, Ackermann S, Ambegaonkar G, Appleton R, Desurkar A, Eltze C, Kneen R, Kumar AV, Lascelles K, Montgomery T, Ramesh V, Samanta R, Scott RH, Tan J, Whitehouse W, Poduri A, Scheffer IE, Chong WKK, Cross JH, Topf M, Petrou S, Kurian MA.

Neurology. 2018 Jan 2;90(1):e55-e66. doi: 10.1212/WNL.0000000000004762. Epub 2017 Dec 1.

43.

Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine.

Mullen SA, Carney PW, Roten A, Ching M, Lightfoot PA, Churilov L, Nair U, Li M, Berkovic SF, Petrou S, Scheffer IE.

Neurology. 2018 Jan 2;90(1):e67-e72. doi: 10.1212/WNL.0000000000004769. Epub 2017 Dec 1.

PMID:
29196578
44.

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, O'Driscoll-Collins A, Berkovic SF, Scheffer IE, Poduri A, Mei D, Guerrini R, Lowenstein DH, Allen AS, Heinzen EL, Goldstein DB.

PLoS Genet. 2017 Nov 29;13(11):e1007104. doi: 10.1371/journal.pgen.1007104. eCollection 2017 Nov.

45.

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE.

Epilepsia. 2018 Jan;59(1):e5-e13. doi: 10.1111/epi.13957. Epub 2017 Nov 24.

46.

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Myers KA, Bennett MF, Chow CW, Carden SM, Mandelstam SA, Bahlo M, Scheffer IE.

Am J Med Genet A. 2018 Jan;176(1):230-234. doi: 10.1002/ajmg.a.38549. Epub 2017 Nov 21.

PMID:
29160035
47.

Sleep problems in Dravet syndrome: a modifiable comorbidity.

Licheni SH, Mcmahon JM, Schneider AL, Davey MJ, Scheffer IE.

Dev Med Child Neurol. 2018 Feb;60(2):192-198. doi: 10.1111/dmcn.13601. Epub 2017 Nov 7.

PMID:
29110313
48.

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.

49.

Gain-of-function HCN2 variants in genetic epilepsy.

Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13.

PMID:
29064616
50.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL.

Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21.

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