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

10.1371/journal.pone.0150426

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Main Authors:	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.
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	2019
Subjects:	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
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161583
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1615832023-09-21T08:26:19Z Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes 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. DUKE-NUS MEDICAL SCHOOL sodium channel Nav1.1 SCN1A protein, human sodium channel Nav1.1 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 epilepsy genetics missense mutation 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 10.1371/journal.pone.0150426 PLoS ONE 11 3 e0150426 2019-11-06T07:59:53Z 2019-11-06T07:59:53Z 2016 Article 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. (2016). Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes. PLoS ONE 11 (3) : e0150426. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0150426 19326203 https://scholarbank.nus.edu.sg/handle/10635/161583 CC0 1.0 Universal http://creativecommons.org/publicdomain/zero/1.0/ Unpaywall 20191101
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	sodium channel Nav1.1 SCN1A protein, human sodium channel Nav1.1 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 epilepsy genetics missense mutation 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
spellingShingle	sodium channel Nav1.1 SCN1A protein, human sodium channel Nav1.1 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 epilepsy genetics missense mutation 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 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. Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes
description	10.1371/journal.pone.0150426
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL 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.
format	Article
author	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.
author_sort	Lal D.
title	Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes
title_short	Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes
title_full	Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes
title_fullStr	Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes
title_full_unstemmed	Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes
title_sort	evaluation of presumably disease causing scn1a variants in a cohort of common epilepsy syndromes
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/161583
_version_	1778169214880710656

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

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