Publications:

A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.

Behavioural Neurology

Baldi, Salem S; Zhu, Jin-Ling JL; Hu, Qing-Yun QY; Wang, Ju-Li JL; Zhang, Jin-Bo JB; Zhang, Shu-Hong SH

Publication Date: 2020

Variant appearance in text: PRRT2: 501C>T

PubMed Link: 32509037

Variant Present in the following documents:

• Main text
• BN2020-2097059.pdf

View BVdb publication page

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: 501C>T

PubMed Link: 31801583

Variant Present in the following documents:

• 13052_2019_Article_755.pdf

View BVdb publication page