Publications:

Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Cells

Sutherland, Heidi G HG; Maksemous, Neven N; Albury, Cassie L CL; Ibrahim, Omar O; Smith, Robert A RA; Lea, Rod A RA; Haupt, Larisa M LM; Jenkins, Bronwyn B; Tsang, Benjamin B; Griffiths, Lyn R LR

Publication Date: 2020-10-28

Variant appearance in text: PRRT2: 650G>A; rs75497546

PubMed Link: 33126486

Variant Present in the following documents:

• Main text
• cells-09-02368.pdf

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Galloping tongue syndrome in a PRRT2 mutation carrier.

Neurology. Genetics

Vilas, Dolores D; Marcé-Grau, Anna A; Macaya, Alfons A; Valls-Solé, Josep J; Tolosa, Eduard E

Publication Date: 2019-12

Variant appearance in text: PRRT2: R217Q

PubMed Link: 31872056

Variant Present in the following documents:

• Main text
• NG2019011056.pdf

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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Plos One

Huguet, Guillaume G; Nava, Caroline C; Lemière, Nathalie N; Patin, Etienne E; Laval, Guillaume G; Ey, Elodie E; Brice, Alexis A; Leboyer, Marion M; Szepetowski, Pierre P; Gillberg, Christopher C; Depienne, Christel C; Delorme, Richard R; Bourgeron, Thomas T

Publication Date: 2014

Variant appearance in text: PRRT2: R217Q

PubMed Link: 24594579

Variant Present in the following documents:

• Main text
• pone.0088600.pdf

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