Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal dominant
8p21.2
Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures. Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6). [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610353.1 | Saudi Arabia | Male | Seizure Seizure  | NM_000742.4:c.537C>G | Heterozygous | Autosomal, Dominant | Monies et al. 2017 | |||
| 610353.2 | Saudi Arabia | Female | Seizure; Ataxia Seizure; Ataxia | NM_000742.4:c.1568C>T | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |