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

Suls, Arvid

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. [electronic resource] - American journal of human genetics Nov 2013 - 967-75 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2013.09.017 doi


Animals
Child
Cognition Disorders--genetics
Cohort Studies
DNA-Binding Proteins--genetics
Epilepsies, Myoclonic--genetics
Exome
Female
Gene Knockdown Techniques
Haploinsufficiency
Humans
Intellectual Disability--genetics
Larva--genetics
Male
NAV1.1 Voltage-Gated Sodium Channel--genetics
Phenotype
Seizures, Febrile--genetics
Young Adult
Zebrafish