Clinical and genetic analysis of a family with two rare reflex epilepsies

Epileptic Syndromes in Infancy, Childhood and Adolescence

J. Rogers, M. Bureau, C. Dravet et al. · Journal of Neuropathology & Experimental Neurology · 1993 · 1.5K citations · Full text

Neuropsychological Functioning, Pediatrics, Epileptic Syndromes +6

Epileptic seizures and syndromes

E. Niedermeyer · Electroencephalography and Clinical Neurophysiology · 1995 · 332 citations

Neuropsychology, Neurophysiology, Neurological Disorder +9

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

Daniel L. Burgess, David C. Kohrman, James R. Galt et al. · Nature Genetics · 1995 · 311 citations

Channelopathies, Molecular Neuroscience, Molecular Physiology +8

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

Emanuele Buratti, Cristiana Stuani, Maurizio Romano et al. · Journal of Biological Chemistry · 2000 · 172 citations · Full text

Consensus on diagnosis and management of JME: From founder's observations to current trends

Dorothée G.A. Kasteleijn- Nolst Trenité, Bettina Schmitz, Diéter Janz et al. · Epilepsy & Behavior · 2013 · 166 citations

Medicine, Disease Diagnosis, Diagnosis +1