PRRT2 c.776dup ;(p.E260*)

Variant ID: 16-29825145-A-AG

NM_145239.2(PRRT2):c.776dup;(p.E260*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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

Italian Journal Of Pediatrics
Pavone, Piero P; Corsello, Giovanni G; Cho, Sung Yoon SY; Pappalardo, Xena Giada XG; Ruggieri, Martino M; Marino, Simona Domenica SD; Jin, Dong Kyu DK; Marino, Silvia S; Falsaperla, Raffaele R
Publication Date: 2019-12-04

Variant appearance in text: PRRT2: 776dupG
PubMed Link: 31801583
Variant Present in the following documents:
  • Main text
  • 13052_2019_Article_755.pdf
View BVdb publication page



Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

Bmc Neurology
Hedera, Peter P; Xiao, Jianfeng J; Puschmann, Andreas A; Momčilović, Dragana D; Wu, Steve W SW; LeDoux, Mark S MS
Publication Date: 2012-09-18

Variant appearance in text: PRRT2: 776dupG
PubMed Link: 22985072
Variant Present in the following documents:
  • Main text
  • 1471-2377-12-93.pdf
View BVdb publication page