Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal dominant
9q34.3
Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. [From OMIM]
| Subject ID | Country | Sex | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|---|
| 614959.1 | Saudi Arabia | Female | Delayed speech and language development;... Delayed speech and language development; Specific learning disability; Abnormal cerebral white matter morphology  | NM_020822.3:c.2178C>A | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |