Associated Papers
Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.
Xu JJ et al.
Annals of Clinical and Translational Neurology, 2025
Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.
Forrest MP et al.
Nature Communications, 2023
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM et al.
Human Molecular Genetics, 2014
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Ishii A et al.
Brain & Development, 2013
PRRT2 mutations and paroxysmal disorders.
Méneret A et al.
European Journal of Neurology, 2013
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Heron SE et al.
Journal of Medical Genetics, 2013
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