Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life, occurrence of migrating polymorphic focal seizures, and progressive deterioration of psychomotor development. Seizures in MMPSI are refractory to conventional treatment with anti-epileptic drugs (AEDs). Early and multiple video/EEG recordings are critical to detect the characteristic multifocal and asynchronous long lasting ictal discharges and are essential for MMPSI diagnosis. MMPSI is a genetically heterogeneous disorder with few known etiologies. Recently, mutations of several genes have been reported in sporadic cases of MMPSI.
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Stodberg 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, Tigerschiold 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
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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
