A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement-Reference-Cited by-同舟云学术

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

Published:2015-07-24 Issue:10 Volume:30 Page:1431-1432
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Doummar Diane¹²³,Mignot Cyril⁴,Apartis Emmanuelle⁵⁶⁷,Villard Laurent⁸,Rodriguez Diana¹²³⁷⁹,Chantot-Bastauraud Sandra¹⁰,Burglen Lydie³⁹¹⁰

Affiliation:

1. AP-HP, Service de Neuropédiatrie, Hôpital Trousseau; Paris France

2. Centre de Référence Neurogénétique de l'Enfant à l'adulte, Hôpital Trousseau; Paris France

3. Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau; Paris France

4. AP-HP; Département de Génétique; Groupe Hospitalier Pitié-Salpêtrière, and Centre de Référence déficiences intellectuelles de causes rares; Paris France

5. AP-HP, Unité de Neurophysiologie, Hôpital Saint-Antoine; Paris France

6. ICM INSERM, UMRS 975, et CNRS 7225-CRICM, Hôpital Pitié-Salpêtrière; Paris France

7. Université Pierre et Marie Curie-Paris-6; Paris France

8. Aix-Marseille Université, Inserm, GMGF, UMR_S910; Marseille France

9. Inserm U1141; Paris France

10. AP-HP, Service de Génétique et d'Embryologie Médicale, Hôpital Armand Trousseau; Paris France

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.26303/fullpdf

Reference7 articles.

1. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24;Corbett;Am J Hum Genet,2010

2. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation;Afawi;Epilepsy Res,2013

3. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy;Falace;Am J Hum Genet,2010

4. TBC1D24 truncating mutation resulting in severe neurodegeneration;Guven;J Med Genet,2013

5. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy;Muona;Nat Genet,2015

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