Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. Despite the broad clinical spectrum, phenotypes were found to be largely concordant within families. Contrary to this observation, we report monozygotic twin sisters w...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Krenn, Martin, Ernst, Margot, Tomschik, Matthias, Treven, Marco, Wagner, Matias, Westphal, Dominik S., Meitinger, Thomas, Pataraia, Ekaterina, Zimprich, Fritz, Aull‐Watschinger, Susanne
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6856628/
https://ncbi.nlm.nih.gov/pubmed/31568673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50895
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