TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation-Reference-Cited by-同舟云学术

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Published:2013-07 Issue:1-2 Volume:105 Page:240-244
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Afawi Zaid,Mandelstam Simone,Korczyn Amos D.,Kivity Sara,Walid Simri,Shalata Adel,Oliver Karen L.,Corbett Mark,Gecz Jozef,Berkovic Samuel F.,Jackson Graeme D.

Funder

National Health and Medical Research Council of Australia

International Science Linkages

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference11 articles.

1. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009;Berg;Epilepsia,2010

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

3. Familial infantile myoclonic epilepsy: clinical features in large kindred with autosomal recessive inheritance;de Falco;Epilepsia,2001

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

5. The neurobehavioural comorbidities of epilepsy: can a natural history be developed?;Hermann;Lancet Neurol.,2008

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3. TBC1D24 and Its Related Epileptic Encephalopathy;Journal of Pediatric Neurology;2021-05-21

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5. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth;Human Mutation;2020-07-15