Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome-Reference-Cited by-同舟云学术

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Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome

Published:2016-07 Issue:4 Volume:20 Page:661-665
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Gburek-Augustat Janina,Beck-Woedl Stefanie,Tzschach Andreas,Bauer Peter,Schoening Martin,Riess Angelika

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference15 articles.

1. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome;Carvill;Neurology,2014

2. Clinical spectrum of early-onset epileptic encephalopathies associates with STXBP1 mutations;Deprez;Neurology,2010

3. De Novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy;Hamdan;Ann Neurol,2009

4. Intellectual disability without epilepsy associated with STXBP1 disruption;Hamdan;Eur J Hum Genet,2011

5. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases;Kingsmore;PLoS Curr,2012

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1. Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia;Neurology Genetics;2024-06

2. STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions;Genes;2023-12-05

3. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1;Neurology;2023-08-29

4. STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy;Movement Disorders Clinical Practice;2022-07-23

5. A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1;Annals of Child Neurology;2022-07-01

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