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Journal of Child Neurology|November 22, 2013
Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plusHadassa Goldberg-Stern, Sharon Aharoni, Zaid Afawi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2014
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblingsAyelet Zerem, Dorit Lev, Lubov Blumkin, et al.
Epilepsia Open|August 24, 2024
Baseline characteristics and predictors for early implantation of vagus nerve stimulation therapy in people with drug-resistant epilepsy: Observations from an international prospective outcomes registry (CORE-VNS)Patrick Kwan, Massimiliano Boffini, Firas Fahoum, et al.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Annals of Neurology|October 22, 2005
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromesXianhua Piao, Bernard S Chang, Adria Bodell, et al.
Clinical & Developmental Immunology|November 24, 2004
Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomyYonatan Ganor, Hadassa Goldberg-Stern, Dina Amrom, et al.
Annals of Neurology|January 3, 2013
Glucose transporter 1 deficiency in the idiopathic generalized epilepsiesTodor Arsov, Saul A Mullen, Sue Rogers, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 10, 2018
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorderNaama Orenstein, Hadassa Goldberg-Stern, Rachel Straussberg, et al.
Neurology|October 19, 2012
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizuresIngrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, et al.
Epilepsia|June 4, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutationsChihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, et al.
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