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- W2757029081 abstract "Objective: Episodic Ataxia type 1 (EA1) is a rare Kv1.1 channelopathy (disease prevalence 1:500 000) caused by a number of point mutations in the KCNA1 gene on chromosome 12p13.32. Due to the incomplete penetrance of disease a wide inter- and intra-familial phenotypic variability is observed. We investigated the heterogeneity of EA1 clinical presentation in one family with the same KCNA1 variant. Methods: One nuclear family (proband 6 yr.-old girl with her 36 yr.-old mother and 16 yr.-old sister, unknown father) with symptoms from EA1 spectrum was evaluated. The DNA sequencing of the whole KCNA1 gene was used for establishing a pathogenic variant associated with clinical findings. Results: In all researched members of family the same pathogenic variant of the KCNA1 gene was confirmed (c.677C>G heterozygote). However, in each member a quite different clinical presentation of EA1 with distinctive main symptoms was observed. The constant myokymia with intermittent neuromyotonia lasting to a few minutes and causing gait disturbances, calf muscles enlargement, Achilles tendons shortening dominated in the 6-yr.-old proband. Older girl with episodic (up to a few seconds) vertigo with blurred vision and dysarthria was previously misdiagnosed as a benign paroxysmal positional vertigo. Mother of both girls was misdiagnosed as tetany and progressive developmental joints dysplasia due to periorbital myokymia, episodic muscles cramps (up to a few minutes), hand posture resembling carpopedal spasm with incoordination of hands and progressive gait disturbances. In all subjects a misdiagnosis of familial arthrogryposis in newborn period was made due to the episodic muscles cramps. Initial treatment of choice with acetazolamide in the proband caused unexpected aggravation of neuromyotonia episodes, therefore the second-line therapy with carbamazepine was introduced, also in other family members, with episodic attacks remission. Conclusion: The KCNA1 gene sequencing should be considered in all patients with episodic neurological phenotypes, also without ataxia presentation." @default.
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- W2757029081 date "2017-06-01" @default.
- W2757029081 modified "2023-09-25" @default.
- W2757029081 title "Clinical heterogeneity of Episodic Ataxia type 1 presentation in family with the c.677C>G KCNA1 gene heterozygosity" @default.
- W2757029081 doi "https://doi.org/10.1016/j.ejpn.2017.04.1122" @default.
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