Lynette Sadleir
Lynette Sadleir
Verified email at otago.ac.nz
Title
Cited by
Cited by
Year
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
5082013
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
4642007
Febrile seizures
LG Sadleir, IE Scheffer
Bmj 334 (7588), 307-311, 2007
2792007
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
2782013
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
2332012
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
2112003
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
2082011
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
1912014
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
1852014
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
1382017
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
1342006
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
1312006
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
1252016
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
1142016
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
962016
Mortality in Dravet syndrome
MS Cooper, A Mcintosh, DE Crompton, JM McMahon, A Schneider, ...
Epilepsy research 128, 43-47, 2016
902016
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
892017
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
832012
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
782012
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
772015
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