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

Diane Doummar 1 Cyril Mignot 1 Emmanuelle Apartis 2 Laurent Villard 3 Diana Rodriguez 4 Sandra Chantot-Bastauraud 5 Lydie Burglen 5 
1 CHU Trousseau [APHP]
2 CHU Saint-Antoine [AP-HP]
3 GMGF - Génétique Médicale et Génomique Fonctionnelle
4 Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement
5 Service de génétique et embryologie médicales [CHU Trousseau]
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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Submitted on : Tuesday, December 19, 2017 - 4:53:42 PM
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INSERM | UNIV-PARIS7 | CNRS | UNIV-AMU | MMG | SORBONNE-UNIVERSITE | SU-MEDECINE | UNIV-PARIS

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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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