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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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Détails bibliographiques
Publié dans:Ann Clin Transl Neurol
Auteurs principaux: Krenn, Martin, Ernst, Margot, Tomschik, Matthias, Treven, Marco, Wagner, Matias, Westphal, Dominik S., Meitinger, Thomas, Pataraia, Ekaterina, Zimprich, Fritz, Aull‐Watschinger, Susanne
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2019
Sujets:
Accès en ligne: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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