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A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

Abstract : The phenotypic spectrum associated with recessive TBC1D24 mutations comprises focal epilepsy with cognitive impairment, familial infantile myoclonic epilepsy without intellectual impairment, progressive encephalopathy with myoclonus and dystonia, progressive myoclonus epilepsy with ataxia, malignant migrating partial seizures of infancy, and DOORS syndrome.7 Here, we report on the case of a child with cortical myoclonus, cerebellar ataxia, and a novel TBC1D24 mutation.
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Diane Doummar, Cyril Mignot, Emmanuelle Apartis, Laurent Villard, Diana Rodriguez, et al.. A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. Movement Disorders, Wiley, 2015, 30 (10), pp.1431-1432. ⟨10.1002/mds.26303⟩. ⟨hal-01664305⟩

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