TBC1D24 truncating mutation resulting in severe neurodegeneration

Abstract excerpt

BACKGROUND: Recessive TBC1D24 gene mutations have been described in two families: an Italian family afflicted with familial infantile myoclonic epilepsy, and an Arab family with focal epilepsy and intellectual disability syndrome. The patients in the Italian family were compound heterozygous for two mutations, whereas those in the Arab family were homozygotes. All three mutations were missense and were determined...

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