Tag : Variant

Latest News

Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

Newsemia
Ling, H; Gelpi, E; Davey, K; Jaunmuktane, Z; Mok, KY; Jabbari, E; Simone, R; … Revesz, T; + view all Ling, H; Gelpi, E; Davey,...
Pediatrics

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Newsemia
Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epileps…...

This website uses cookies to improve your experience. We'll assume you're ok with this, but you can opt-out if you wish. Accept Read More

Privacy & Cookies Policy