SNOMEDCT: 718752007; ORPHA: 209970; DO: 0050995;
Cytogenetic location: 19q13 Genomic coordinates (GRCh38) : 19:31,900,001-58,617,616
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 19q13 | Episodic ataxia, type 7 | 611907 | Autosomal dominant | 2 |
For a phenotypic description and a discussion of episodic ataxia, see EA1 (160120).
Kerber et al. (2007) reported a 4-generation family in which 7 members had episodic ataxia. Inheritance was autosomal dominant. Onset occurred before age 20 years, and attacks lasted hours to days and were associated with weakness and dysarthria. Triggers included exercise and excitement. Two affected family members reported vertigo during attacks. Frequency ranged from monthly to yearly and tended to decrease with age. Two affected family members had migraine headaches that were not associated with episodic ataxia. There were no interictal findings on neurologic examination.
By genomewide linkage and haplotype analysis of a family with episodic ataxia, Kerber et al. (2007) identified a 10-cM candidate region, termed EA7, between rs1366444 and rs952108 on chromosome 19q13 (maximum lod score of 3.28). No mutations were identified in the KCNC3 (176264) or SLC17A7 (605208) genes.
Kerber, K. A., Jen, J. C., Lee, H., Nelson, S. F., Baloh, R. W. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch. Neurol. 64: 749-752, 2007. [PubMed: 17502476] [Full Text: https://doi.org/10.1001/archneur.64.5.749]