De novo KCNT1 mutations in early‐onset epileptic encephalopathy

Summary KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types of early onset epileptic encephalopathies (EOEEs). We performed KCNT1‐targete...

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Veröffentlicht in:	Epilepsia (Copenhagen) 2015-09, Vol.56 (9), p.e121-e128
Hauptverfasser:	Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Nobuya, Osaka, Hitoshi, Shiihara, Takashi, Tohyama, Jun, Nabatame, Shin, Azuma, Junji, Fujii, Yuji, Hara, Munetsugu, Tsurusawa, Reimi, Inoue, Takahito, Ogata, Reina, Watanabe, Yoriko, Togashi, Noriko, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain - pathology Child Child, Preschool De novo mutation DNA Mutational Analysis Early onset epileptic encephalopathies Electroencephalography Epilepsy of infancy with migrating focal seizures Humans Infant KCNT1 Magnetic Resonance Imaging Mutation - genetics Nerve Tissue Proteins - genetics Potassium Channels - genetics Spasms, Infantile - genetics
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