A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement - Aix-Marseille Université Access content directly
Journal Articles Movement Disorders Year : 2015

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

Diane Doummar
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  • PersonId : 953196
Cyril Mignot
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  • PersonId : 902582
Emmanuelle Apartis
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  • PersonId : 948818
Lydie Burglen
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  • PersonId : 922031

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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Dates and versions

hal-01664305 , version 1 (19-12-2017)

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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, 2015, 30 (10), pp.1431-1432. ⟨10.1002/mds.26303⟩. ⟨hal-01664305⟩
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