De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.
Kuchenbuch M, Benquet P, Kaminska A, Roubertie A, Carme E, de Saint Martin A, Hirsch E, Dubois F, Laroche C, Barcia G, Chemaly N, Milh M, Villeneuve N, Sauleau P, Modolo J, Wendling F, Nabbout R.
Epilepsia. 2019 Jan;60(1):20-32. doi: 10.1111/epi.14605. Epub 2018 Dec 7.
PMID:30525185
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiöld S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA.
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.
Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.
PMID:24888894
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Mitta N, Menon RN, McTague A, Radhakrishnan A, Sundaram S, Cherian A, Madhavilatha GK, Mannan AU, Nampoothiri S, Thomas SV.
Epilepsy Res. 2020 Oct;166:106398. doi: 10.1016/j.eplepsyres.2020.106398. Epub 2020 Jun 18.
PMID:32593896
Epilepsy and malformations of the cerebral cortex.
Guerrini R, Sicca F, Parmeggiani L.
Epileptic Disord. 2003 Sep;5 Suppl 2:S9-26.
PMID:14617417
De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms.