Lynette Sadleir
Lynette Sadleir
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
GL Carvill, SB Heavin, SC Yendle, JM McMahon, BJ O'Roak, J Cook, ...
Nature genetics 45 (7), 825-830, 2013
The spectrum of SCN1A-related infantile epileptic encephalopathies
LA Harkin, JM McMahon, X Iona, L Dibbens, JT Pelekanos, SM Zuberi, ...
Brain 130 (3), 843-852, 2007
Febrile seizures
LG Sadleir, IE Scheffer
Bmj 334 (7588), 307-311, 2007
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, ...
Nature genetics 45 (9), 1073-1076, 2013
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ...
The American Journal of Human Genetics 90 (1), 152-160, 2012
Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
RH Wallace, BL Hodgson, BE Grinton, RM Gardiner, R Robinson, ...
Neurology 61 (6), 765-769, 2003
Rare copy number variants are an important cause of epileptic encephalopathies
HC Mefford, SC Yendle, C Hsu, J Cook, E Geraghty, JM McMahon, ...
Annals of neurology 70 (6), 974-985, 2011
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
GL Carvill, S Weckhuysen, JM McMahon, C Hartmann, RS Møller, ...
Neurology 82 (14), 1245-1253, 2014
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults
FE Jansen, LG Sadleir, LA Harkin, L Vadlamudi, JM McMahon, JC Mulley, ...
Neurology 67 (12), 2224-2226, 2006
Electroclinical features of absence seizures in childhood absence epilepsy
LG Sadleir, K Farrell, S Smith, MB Connolly, IE Scheffer
Neurology 67 (3), 413-418, 2006
Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
RD Bagnall, DE Crompton, S Petrovski, L Lam, C Cutmore, SI Garry, ...
Annals of neurology 79 (4), 522-534, 2016
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies
CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ...
The American Journal of Human Genetics 99 (2), 287-298, 2016
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
MG Ricos, BL Hodgson, T Pippucci, A Saidin, YS Ong, SE Heron, ...
Annals of neurology 79 (1), 120-131, 2016
Mortality in Dravet syndrome
MS Cooper, A Mcintosh, DE Crompton, JM McMahon, A Schneider, ...
Epilepsy research 128, 43-47, 2016
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
T Arsov, SA Mullen, JA Damiano, KM Lawrence, LL Huh, M Nolan, ...
Epilepsia 53 (12), e204-e207, 2012
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
IE Scheffer, BE Grinton, SE Heron, S Kivity, Z Afawi, X Iona, ...
Neurology 79 (21), 2104-2108, 2012
CHD2 variants are a risk factor for photosensitivity in epilepsy
EC Galizia, CT Myers, C Leu, CGF De Kovel, T Afrikanova, ...
Brain 138 (5), 1198-1208, 2015
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