Goryu Fukuma

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 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

A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.

Shinichi Hirose, Fumiko Zenri, Hidetaka Akiyoshi et al. · PubMed · 2000 · 100 citations

Novel Mutation, Channelopathies, Signal Transduction +10

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

Shinichi Hirose, Fumiko Zenri, Hidetaka Akiyoshi et al. · Annals of Neurology · 2000 · 83 citations

Developmental Anomaly, Channelopathies, Molecular Neuroscience +15

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1A

M. Ito, Hiroshi Nagafuji, Hidehiko Okazawa et al. · Epilepsy Research · 2002 · 73 citations

Synaptic Plasticity, Autosomal Dominant Epilepsy, Neurophysiology +10