Sunao Kaneko

A missense mutation of the Na ⁺ channel α _II subunit gene <i>Na</i> _v <i>1.2</i> in a patient with febrile and afebrile seizures causes channel dysfunction

Takashi Sugawara, Yuji Tsurubuchi, Kishan Agarwala et al. · Proceedings of the National Academy of Sciences · 2001 · 378 citations · Full text

Mutations in EFHC1 cause juvenile myoclonic epilepsy

Toshimitsu Suzuki, Antonio V. Delgado‐Escueta, Kripamoy Aguan et al. · Nature Genetics · 2004 · 370 citations

Disease Gene Identification, Genetics, Neuroscience +1

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

Shuichi Ueno, Yoshiko Maruki, Masayuki Nakamura et al. · Nature Genetics · 2001 · 300 citations

Biliary Tract, Biliary Cancer, Pathogenesis +6

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

Elaine Wirrell, Rima Nabbout, Ingrid E. Scheffer et al. · Epilepsia · 2022 · 247 citations · Full text

Psychiatry, Neurological Disorder, Neuroepidemiology +14

Mutations of Neuronal Voltage‐gated Na⁺ Channel α1 Subunit Gene <i>SCN1A</i> in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

Goryu Fukuma, Hirokazu Oguni, Yukiyoshi Shirasaka et al. · Epilepsia · 2004 · 186 citations