Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia-Reference-Cited by-同舟云学术

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Published:2020-05-28 Issue:10 Volume:28 Page:1403-1413
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Doummar Diane,Dentel Christel,Lyautey Romane,Metreau Julia,Keren Boris,Drouot Nathalie,Malherbe Ludivine,Bouilleret Viviane,Courraud Jérémie,Valenti-Hirsch Maria Paola,Minotti Lorella,Dozieres-Puyravel Blandine,Bär Séverine,Scholly Julia,Schaefer Elise,Nava Caroline,Wirth Thomas^ORCID,Nasser Hala,de Salins Marie,de Saint Martin Anne,Warde Marie Thérèse Abi,Kahane Philippe,Hirsch Edouard,Anheim Mathieu,Friant Sylvie^ORCID,Chelly Jamel,Mignot Cyril,Rudolf Gabrielle^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-020-0641-9.pdf

Reference34 articles.

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3. McGuire S, Chanchani S, Khurana DS. Paroxysmal dyskinesias. Semin Pediatr Neurol. 2018;25:75–81.

4. Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015;138:3476–95.

5. Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YC, Lerche H, et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord. 2009;24:1684–8.

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