S. Kaneko

发表

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

M. T. Medina, K. Yamakawa, S. Fujimoto, 2008, Neurology.

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

H. Oguni, A. Mitsudome, H. Iwasa, 2004, Neurology.

Structural change in dopamine D2 receptor gene in a patient with neuroleptic malignant syndrome.

P. Keck, S. McElroy, E. Gershon, 1995, American journal of medical genetics.

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

H. Kawakami, H. Morino, A. Kakizuka, 2020, Journal of Human Genetics.

Phenotypes and genotypes in epilepsy with febrile seizures plus

K. Yamakawa, S. Hirose, S. Kaneko, 2006, Epilepsy Research.

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

K. Yamakawa, H. Okazawa, H. Okazawa, 2002, Epilepsy Research.

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures

T. Inoue, H. Kurahashi, T. Kojima, 2009, Neurology.

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

T. Kojima, S. Kuwabara, H. Oguni, 2009, Journal of Medical Genetics.

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

K. Yamakawa, A. Mitsudome, S. Hirose, 2001, Neurology.

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

G. Bernardi, P. S. St George-Hyslop, E. Rogaeva, 2006, Movement disorders : official journal of the Movement Disorder Society.

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

Katsuhiro Kobayashi, A. Mitsudome, S. Hirose, 1999, Neurology.

juvenile myoclonic epilepsy in sporadic and familial Myoclonin 1 / EFHC 1 Novel mutations in

M. T. Medina, K. Yamakawa, S. Fujimoto, 2008 .