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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Clin Transl Neurol
Prif Awduron: Krenn, Martin, Ernst, Margot, Tomschik, Matthias, Treven, Marco, Wagner, Matias, Westphal, Dominik S., Meitinger, Thomas, Pataraia, Ekaterina, Zimprich, Fritz, Aull‐Watschinger, Susanne
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Brief Communications
Mynediad Ar-lein: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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