Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. [From OMIM]
Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
Autosomal dominant
5p13.2
Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. [From OMIM]
| Subject ID | Country | Sex | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|---|
| 612656.1 | Saudi Arabia | Male | Spasticity; Gait disturbance; Muscle wea... Spasticity; Gait disturbance; Muscle weakness  | NM_004172.5:c.525-16A>G | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |