Cargando…
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...
Autores principales: | Krenn, Martin, Ernst, Margot, Tomschik, Matthias, Treven, Marco, Wagner, Matias, Westphal, Dominik S., Meitinger, Thomas, Pataraia, Ekaterina, Zimprich, Fritz, Aull‐Watschinger, Susanne |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856628/ https://www.ncbi.nlm.nih.gov/pubmed/31568673 http://dx.doi.org/10.1002/acn3.50895 |
Ejemplares similares
-
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype
por: Vogel, Florian D., et al.
Publicado: (2022) -
Psychiatric symptoms and comorbidities in patients with drug-resistant epilepsy in presurgical assessment—A prospective explorative single center study
por: Friedrich, Fabian, et al.
Publicado: (2022) -
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
por: Krenn, Martin, et al.
Publicado: (2019) -
Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach
por: Krenn, M., et al.
Publicado: (2019) -
Twinning: Coronary Artery Disease in Monozygotic Twins
por: Smith, Megan C, et al.
Publicado: (2021)