Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic variants in either CCM1 (KRIT1), CCM2 or CCM3...

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Bibliographic Details
Main Authors: Christiane D. Much, Konrad Schwefel, Dariush Skowronek, Loay Shoubash, Felix von Podewils, Miriam Elbracht, Stefanie Spiegler, Ingo Kurth, Agnes Flöel, Henry W. S. Schroeder, Ute Felbor, Matthias Rath
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Neurology
Subjects:
cerebral cavernous malformations
novel CCM2 mutations
CCM2 transcript analyses
CNV analyses
seizures
cerebral hemorrhage
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.01219/full

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