Suls et al., 2013
- De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome.
American journal of human genetics
93(5):967-975
Full text @ Am. J. Hum. Genet.
Human Disease | Fish | Environment | Evidence Code |
---|---|---|---|
Dravet syndrome | |||
early myoclonic encephalopathy | |||
myoclonic-atonic epilepsy | WT + MO1-chd2 | standard conditions |