Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes

• المؤلفون الرئيسيون: Lal D., Reinthaler E.M., Dejanovic B., May P., Thiele H., Lehesjoki A.-E., Schwarz G., Riesch E., Ikram M.A., Van Duijn C.M., Uitterlinden A.G., Hofman A., Steinböck H., Gruber-Sedlmayr U., Neophytou B., Zara F., Hahn A., Gormley P., Becker F., Weber Y.G., Cilio M.R., Kunz W.S., Krause R., Zimprich F., Lemke J.R., Nürnberg P., Sander T., Lerche H., Neubauer B.A., Palotie A., Ruppert A.-K., Suls A., Siren A., Koeleman B., Haberlandt E., Ronen G.M., Caglayan H., Hjalgrim H., Muhle H., Schulz H., Helbig I., Altmüller J., Geldner J., Schubert J., Jabbari K., Everett K., Feucht M., Balestri M., Nothnagel M., Striano P., Møller R.S., Nabbout R., Balling R., Baulac S., Bianchi A., La Neve A., Minetti C., Giuseppe C.
• مؤلفون آخرون: DUKE-NUS MEDICAL SCHOOL
• التنسيق: مقال
• منشور في: 2019
• الموضوعات: sodium channel Nav1.1; SCN1A protein, human; Article; cohort analysis; controlled study; disease classification; epilepsy; exome; female; follow up; gene frequency; gene mutation; gene sequence; genetic counseling; genetic risk; genetic screening; genetic variability; human; major clinical study; male; missense mutation; pathogenicity; penetrance; SCN1A gene; amino acid substitution; case control study; clinical trial; genetics; multicenter study; risk factor; syndrome; Amino Acid Substitution; Case-Control Studies; Epilepsy; Female; Humans; Male; Mutation, Missense; NAV1.1 Voltage-Gated Sodium Channel; Risk Factors; Syndrome
• الوصول للمادة أونلاين: https://scholarbank.nus.edu.sg/handle/10635/161583

10.1371/journal.pone.0150426