What is it about?
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, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability.
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Why is it important?
We discuss and highlight for the first time that dominant inheritance of TBC1D24 mutations might be associated with epilepsy.
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This page is a summary of: Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability, F1000Research, April 2017, Faculty of 1000, Ltd.,
DOI: 10.12688/f1000research.10588.1.
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