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Items: 1 to 50 of 57

1.

Autism and developmental disability caused by KCNQ3 gain-of-function variants.

Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR.

Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26.

PMID:
31177578
2.

Double somatic mosaicism in a child with Dravet syndrome.

Muir AM, King C, Schneider AL, Buttar AS, Scheffer IE, Sadleir LG, Mefford HC.

Neurol Genet. 2019 Apr 19;5(3):e333. doi: 10.1212/NXG.0000000000000333. eCollection 2019 Jun. No abstract available.

3.

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, Xing 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, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, 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. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

4.

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.

Vlaskamp DRM, Bassett AS, Sullivan JE, Robblee J, Sadleir LG, Scheffer IE, Andrade DM.

Epilepsia. 2019 Mar;60(3):429-440. doi: 10.1111/epi.14678. Epub 2019 Mar 3.

PMID:
30828795
5.

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
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, Xing 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, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, 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. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562.

7.

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.

8.

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. 2019 Feb;24(2):241-251. doi: 10.1038/s41380-018-0066-9. Epub 2018 Jun 11. Review.

9.

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.

10.

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.

11.

Do neurologists around the world agree when diagnosing epilepsy? - Results of an international EpiNet study.

Bergin PS, Beghi E, Sadleir LG, Tripathi M, Richardson MP, Bianchi E, D'Souza WJ; EpiNet Study Group.

Epilepsy Res. 2018 Jan;139:43-50. doi: 10.1016/j.eplepsyres.2017.10.014. Epub 2017 Oct 26.

PMID:
29175563
12.

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.

13.

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.

14.

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA; DDD Study, Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE.

Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9.

15.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

16.

EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process.

Bergin PS, Beghi E, Sadleir LG, Brockington A, Tripathi M, Richardson MP, Bianchi E, Srivastava K, Jayabal J, Legros B, Ossemann M, McGrath N, Verrotti A, Tan HJ, Beretta S, Frith R, Iniesta I, Whitham E, Wanigasinghe J, Ezeala-Adikaibe B, Striano P, Rosemergy I, Walker EB, Alkhidze M, Rodriguez-Leyva I, Ramírez González JA, D'Souza WJ; EpiNet Study Group.

Epilepsia Open. 2017 Jan 3;2(1):20-31. doi: 10.1002/epi4.12033. eCollection 2017 Mar.

17.

Mortality in Dravet syndrome.

Cooper MS, Mcintosh A, Crompton DE, McMahon JM, Schneider A, Farrell K, Ganesan V, Gill D, Kivity S, Lerman-Sagie T, McLellan A, Pelekanos J, Ramesh V, Sadleir L, Wirrell E, Scheffer IE.

Epilepsy Res. 2016 Dec;128:43-47. doi: 10.1016/j.eplepsyres.2016.10.006. Epub 2016 Oct 26.

PMID:
27810515
18.

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL.

Am J Hum Genet. 2016 Aug 4;99(2):423-9. doi: 10.1016/j.ajhg.2016.05.031. Epub 2016 Jul 21.

19.

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Ha TT, Sadleir LG, Mandelstam SA, Paterson SJ, Scheffer IE, Gecz J, Corbett MA.

Am J Med Genet A. 2016 Apr;170A(4):1059-63. doi: 10.1002/ajmg.a.37527. Epub 2015 Dec 28.

PMID:
26708157
20.

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Bagnall RD, Crompton DE, Petrovski S, Lam L, Cutmore C, Garry SI, Sadleir LG, Dibbens LM, Cairns A, Kivity S, Afawi Z, Regan BM, Duflou J, Berkovic SF, Scheffer IE, Semsarian C.

Ann Neurol. 2016 Apr;79(4):522-34. doi: 10.1002/ana.24596. Epub 2016 Feb 2.

PMID:
26704558
21.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.

Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung SK, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM.

EBioMedicine. 2015 Jul 10;2(9):1063-70. doi: 10.1016/j.ebiom.2015.07.005. eCollection 2015 Sep.

22.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Tan C, Shard C, Ranieri E, Hynes K, Pham DH, Leach D, Buchanan G, Corbett M, Shoubridge C, Kumar R, Douglas E, Nguyen LS, Mcmahon J, Sadleir L, Specchio N, Marini C, Guerrini R, Moller RS, Depienne C, Haan E, Thomas PQ, Berkovic SF, Scheffer IE, Gecz J.

Hum Mol Genet. 2015 Sep 15;24(18):5250-9. doi: 10.1093/hmg/ddv245. Epub 2015 Jun 29.

PMID:
26123493
23.

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.

Sadleir LG, Paterson S, Smith KR, Redshaw N, Ranta A, Kalnins R, Berkovic SF, Bahlo M, Hildebrand MS, Scheffer IE.

Epilepsy Res. 2015 Aug;114:98-105. doi: 10.1016/j.eplepsyres.2015.04.014. Epub 2015 May 5.

PMID:
26088892
24.

CHD2 variants are a risk factor for photosensitivity in epilepsy.

Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM.

Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17.

25.

Response to "Asymmetric dimethylarginine and vascular risk in patients treated with antiepileptic drugs".

Keenan N, Sadleir L, Wiltshire E.

Epilepsy Res. 2014 Dec;108(10):1962. doi: 10.1016/j.eplepsyres.2014.09.026. Epub 2014 Oct 2. No abstract available.

PMID:
25449365
26.

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC.

Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12.

27.

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

Sadleir LG, Agher D, Chabrol E, Elkouby L, Leguern E, Paterson SJ, Harty R, Bellows ST, Berkovic SF, Scheffer IE, Baulac S.

Epilepsy Res. 2013 Dec;107(3):311-7. doi: 10.1016/j.eplepsyres.2013.09.008. Epub 2013 Oct 8.

PMID:
24206907
28.

GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC.

Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11.

29.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM.

Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29.

30.

The epilepsy phenome/genome project.

EPGP Collaborative, Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S, Crumrine P, Devinsky O, Dlugos D, Epstein M, Fahlstrom R, Fiol M, Fountain N, Fox K, French J, Freyer Karn C, Friedman D, Geller E, Glauser T, Glynn S, Haas K, Haut S, Hayward J, Helmers S, Joshi S, Kanner A, Kirsch H, Knowlton R, Kossoff E, Kuperman R, Kuzniecky R, Lowenstein D, McGuire S, Motika P, Nesbitt G, Novotny E, Ottman R, Paolicchi J, Parent J, Park K, Poduri A, Risch N, Sadleir L, Scheffer I, Shellhaas R, Sherr E, Shih JJ, Shinnar S, Singh R, Sirven J, Smith M, Sullivan J, Thio LL, Venkat A, Vining E, von Allmen G, Weisenberg J, Widdess-Walsh P, Winawer M.

Clin Trials. 2013 Aug;10(4):568-86. doi: 10.1177/1740774513484392. Epub 2013 Jul 1.

31.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

32.

Clinical genetic study of the epilepsy-aphasia spectrum.

Tsai MH, Vears DF, Turner SJ, Smith RL, Berkovic SF, Sadleir LG, Scheffer IE.

Epilepsia. 2013 Feb;54(2):280-7. doi: 10.1111/epi.12065. Epub 2013 Jan 7.

33.

Family studies of individuals with eyelid myoclonia with absences.

Sadleir LG, Vears D, Regan B, Redshaw N, Bleasel A, Scheffer IE.

Epilepsia. 2012 Dec;53(12):2141-8. doi: 10.1111/j.1528-1167.2012.03692.x.

34.

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF, Crompton DE, Sadleir LG, Scheffer IE.

Epilepsia. 2012 Dec;53(12):e204-7. doi: 10.1111/epi.12007. Epub 2012 Oct 25.

35.

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM.

Neurology. 2012 Nov 20;79(21):2104-8. doi: 10.1212/WNL.0b013e3182752c6c. Epub 2012 Oct 17.

36.

An international pilot study of an Internet-based platform to facilitate clinical research in epilepsy: the EpiNet project.

Bergin P, Sadleir L, Legros B, Mogal Z, Tripathi M, Dang N, Beretta S, Zanchi C, Burneo J, Borkowski T, Cho YJ, Ossemann M, Striano P, Srivastava K, Tan HJ, Wanigasinghe J, D'Souza W; EpiNet study group.

Epilepsia. 2012 Oct;53(10):1829-35. doi: 10.1111/j.1528-1167.2012.03636.x. Epub 2012 Sep 7.

37.

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.

Crompton DE, Sadleir LG, Bromhead CJ, Bahlo M, Bellows ST, Arsov T, Harty R, Lawrence KM, Dunne JW, Berkovic SF, Scheffer IE.

Arch Neurol. 2012 Apr;69(4):474-81. doi: 10.1001/archneurol.2011.584.

PMID:
22491192
38.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.

Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.

39.

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes.

Vears DF, Tsai MH, Sadleir LG, Grinton BE, Lillywhite LM, Carney PW, Harvey AS, Berkovic SF, Scheffer IE.

Epilepsia. 2012 Feb;53(2):319-24. doi: 10.1111/j.1528-1167.2011.03368.x. Epub 2012 Jan 5.

40.

Rare copy number variants are an important cause of epileptic encephalopathies.

Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE.

Ann Neurol. 2011 Dec;70(6):974-85. doi: 10.1002/ana.22645.

41.

Electroclinical features of absence seizures in sleep.

Sadleir LG, Farrell K, Smith S, Connolly MB, Scheffer IE.

Epilepsy Res. 2011 Feb;93(2-3):216-20. doi: 10.1016/j.eplepsyres.2010.12.009. Epub 2011 Jan 20.

PMID:
21255980
42.

Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures.

Sadleir LG, Scheffer IE.

Arch Neurol. 2010 Nov;67(11):1345-9. doi: 10.1001/archneurol.2010.155. Epub 2010 Jul 12.

PMID:
20625070
43.

Using the Internet to recruit patients for epilepsy trials: results of a New Zealand pilot study.

Bergin PS, Ip T, Sheehan R, Frith RW, Sadleir LG, McGrath N, Ranta A, Walker EB.

Epilepsia. 2010 May;51(5):868-73. doi: 10.1111/j.1528-1167.2009.02393.x. Epub 2009 Nov 3.

44.

Automatisms in absence seizures in children with idiopathic generalized epilepsy.

Sadleir LG, Scheffer IE, Smith S, Connolly MB, Farrell K.

Arch Neurol. 2009 Jun;66(6):729-34. doi: 10.1001/archneurol.2009.108.

PMID:
19506132
45.

EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state.

Sadleir LG, Scheffer IE, Smith S, Carstensen B, Farrell K, Connolly MB.

Epilepsia. 2009 Jun;50(6):1572-8. doi: 10.1111/j.1528-1167.2008.02001.x. Epub 2009 Feb 23.

46.

Factors influencing clinical features of absence seizures.

Sadleir LG, Scheffer IE, Smith S, Carstensen B, Carlin J, Connolly MB, Farrell K.

Epilepsia. 2008 Dec;49(12):2100-7. doi: 10.1111/j.1528-1167.2008.01708.x. Epub 2008 Jun 26.

47.

Bringing epilepsy out of the shadows in New Zealand.

Bergin PS, Sadleir LG, Walker EB.

N Z Med J. 2008 Jan 25;121(1268):U2894. Review.

PMID:
18256710
48.

Juvenile Alpers disease.

Wiltshire E, Davidzon G, DiMauro S, Akman HO, Sadleir L, Haas L, Zuccollo J, McEwen A, Thorburn DR.

Arch Neurol. 2008 Jan;65(1):121-4. doi: 10.1001/archneurol.2007.14.

PMID:
18195149
49.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE.

Brain. 2007 Mar;130(Pt 3):843-52.

PMID:
17347258
50.

Febrile seizures.

Sadleir LG, Scheffer IE.

BMJ. 2007 Feb 10;334(7588):307-11. Review. No abstract available.

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