Emi Mazaki-Miyazaki

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

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

Takashi Sugawara, Emi Mazaki-Miyazaki, Katsuyuki Fukushima et al. · Neurology · 2002 · 236 citations

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents

Takashi Sugawara, Yuji Tsurubuchi, Tateki Fujiwara et al. · Epilepsy Research · 2003 · 79 citations

Hyperpolarization (Biology), Neurophysiology, Severe Myoclonic Epilepsy +13

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

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures

Kazue Kimura, Takashi Sugawara, Emi Mazaki-Miyazaki et al. · Brain and Development · 2005 · 54 citations

Mendelian Disorder, Genetic Disorder, Genetics +5