Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

EuroEPINOMICS Rare Epilepsy Syndro, Gemma L. Carvill, Anna-Elina Lehesjoki

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftAmerican Journal of Human Genetics
Volym103
Utgåva6
Sidor (från-till)1022-1029
Antal sidor8
ISSN0002-9297
DOI
StatusPublicerad - 6 dec 2018
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3111 Biomedicinska vetenskaper

Citera det här

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title = "Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies",
keywords = "DE-NOVO MUTATIONS, NEURONAL SODIUM-CHANNEL, FEBRILE SEIZURES PLUS, SPLICE VARIANTS, SCN1A, PROTEIN, REGULATOR, BRAIN, 3111 Biomedicine",
author = "{EuroEPINOMICS Rare Epilepsy Syndro} and Carvill, {Gemma L.} and Engel, {Krysta L.} and Aishwarya Ramamurthy and Cochran, {J. Nicholas} and Jolien Roovers and Hannah Stamberger and Nicholas Lim and Schneider, {Amy L.} and Georgie Hollingsworth and Holder, {Dylan H.} and Regan, {Brigid M.} and James Lawlor and Lieven Lagae and Berten Ceulemans and Bebin, {E. Martina} and John Nguyen and Barsh, {Gregory S.} and Sarah Weckhuysen and Miriam Meisler and Berkovic, {Samuel E.} and {De Jonghe}, Peter and Scheffer, {Ingrid E.} and Myers, {Richard M.} and Cooper, {Gregory M.} and Mefford, {Heather C.} and Anna-Elina Lehesjoki",
year = "2018",
month = "12",
day = "6",
doi = "10.1016/j.ajhg.2018.10.023",
language = "English",
volume = "103",
pages = "1022--1029",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",

}

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. / EuroEPINOMICS Rare Epilepsy Syndro; Carvill, Gemma L.; Lehesjoki, Anna-Elina.

I: American Journal of Human Genetics, Vol. 103, Nr. 6, 06.12.2018, s. 1022-1029.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

AU - EuroEPINOMICS Rare Epilepsy Syndro

AU - Carvill, Gemma L.

AU - Engel, Krysta L.

AU - Ramamurthy, Aishwarya

AU - Cochran, J. Nicholas

AU - Roovers, Jolien

AU - Stamberger, Hannah

AU - Lim, Nicholas

AU - Schneider, Amy L.

AU - Hollingsworth, Georgie

AU - Holder, Dylan H.

AU - Regan, Brigid M.

AU - Lawlor, James

AU - Lagae, Lieven

AU - Ceulemans, Berten

AU - Bebin, E. Martina

AU - Nguyen, John

AU - Barsh, Gregory S.

AU - Weckhuysen, Sarah

AU - Meisler, Miriam

AU - Berkovic, Samuel E.

AU - De Jonghe, Peter

AU - Scheffer, Ingrid E.

AU - Myers, Richard M.

AU - Cooper, Gregory M.

AU - Mefford, Heather C.

AU - Lehesjoki, Anna-Elina

PY - 2018/12/6

Y1 - 2018/12/6

KW - DE-NOVO MUTATIONS

KW - NEURONAL SODIUM-CHANNEL

KW - FEBRILE SEIZURES PLUS

KW - SPLICE VARIANTS

KW - SCN1A

KW - PROTEIN

KW - REGULATOR

KW - BRAIN

KW - 3111 Biomedicine

U2 - 10.1016/j.ajhg.2018.10.023

DO - 10.1016/j.ajhg.2018.10.023

M3 - Article

VL - 103

SP - 1022

EP - 1029

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -