Article

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

2017-04-24

Abstract excerpt

Mutations disrupting presynaptic <ns4:italic/> protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkins...

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Literature Corpus work: 40ee090a-4d32-5882-b324-1ecb9f53c917
DOI: 10.12688/f1000research.10588.1

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