De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

A. Suls; J.A. Jaehn; E.H. Brilstra; B.P.C. Koeleman; [No Value] et al; I. Helbig

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

Translated title of the contribution: De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

A. Suls, J.A. Jaehn, E.H. Brilstra, B.P.C. Koeleman, [No Value] et al, I. Helbig

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
Original language	Undefined/Unknown
Pages (from-to)	967-975
Number of pages	9
Journal	American Journal of Human Genetics
Volume	93
Issue number	5
Publication status	Published - 2013

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed/?term=24207121

Cite this

@article{f6eab369738a42339f4cf24847a84ede,

title = "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome",

keywords = "Econometric and Statistical Methods: General, Geneeskunde (GENK), Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "A. Suls and J.A. Jaehn and E.H. Brilstra and B.P.C. Koeleman and {et al}, {[No Value]} and I. Helbig",

year = "2013",

language = "Undefined/Unknown",

volume = "93",

pages = "967--975",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

}

TY - JOUR

T1 - De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

AU - Suls, A.

AU - Jaehn, J.A.

AU - Brilstra, E.H.

AU - Koeleman, B.P.C.

AU - et al, [No Value]

AU - Helbig, I.

PY - 2013

Y1 - 2013

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Article

SN - 0002-9297

VL - 93

SP - 967

EP - 975

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -