DISEASE: Malignant migrating partial seizures in infancy
Entry
H01815 Disease
Name
Malignant migrating partial seizures in infancy
Supergrp
Early infantile epileptic encephalopathy [DS:H00606] Symptomatic generalized epilepsies [DS:H00577]
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Epilepsy or seizures
8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy
H01815 Malignant migrating partial seizures in infancy
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
Title
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
Title
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
