TY - JOUR
T1 - Phenotypic variability of GABRA1-related epilepsy in monozygotic twins
AU - Krenn, Martin
AU - Ernst, Margot
AU - Tomschik, Matthias
AU - Treven, Marco
AU - Wagner, Matias
AU - Westphal, Dominik S.
AU - Meitinger, Thomas
AU - Pataraia, Ekaterina
AU - Zimprich, Fritz
AU - Aull-Watschinger, Susanne
N1 - Publisher Copyright:
© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
PY - 2019/11/1
Y1 - 2019/11/1
N2 - 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 with generalized epilepsy due to the c.541C>T; p.(Pro181Ser) de novo variant in GABRA1. One experienced juvenile absence seizures promptly responding to first-line medication, whereas the second developed severe treatment-refractory epilepsy with febrile, absence, atonic, and tonic-clonic seizures indicating marked intrafamilial variability in GABRA1-related epilepsy. Moreover, we provide a molecular characterization of the novel variant based on recently published structural data.
AB - 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 with generalized epilepsy due to the c.541C>T; p.(Pro181Ser) de novo variant in GABRA1. One experienced juvenile absence seizures promptly responding to first-line medication, whereas the second developed severe treatment-refractory epilepsy with febrile, absence, atonic, and tonic-clonic seizures indicating marked intrafamilial variability in GABRA1-related epilepsy. Moreover, we provide a molecular characterization of the novel variant based on recently published structural data.
UR - http://www.scopus.com/inward/record.url?scp=85073961585&partnerID=8YFLogxK
U2 - 10.1002/acn3.50895
DO - 10.1002/acn3.50895
M3 - Article
C2 - 31568673
AN - SCOPUS:85073961585
SN - 2328-9503
VL - 6
SP - 2317
EP - 2322
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
IS - 11
ER -