Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK)
Evidence-based neurology checklist on myoclonus epilepsy and ataxia due to potassium channel mutation (meak): Genetics This is caused by mutations in the KCNC1 gene on chromosome 11 The gene encodes the Kv3.1 subunit of the voltage-gated potassium channel The onset age is 3-15 years The mutations…
Genetics
- This is caused by mutations in the KCNC1 gene on chromosome 11
- The gene encodes the Kv3.1 subunit of the voltage-gated potassium channel
- The onset age is 3-15 years
- The mutations may give rise to neurodevelopmental disorders without seizures
Clinical features
Differential diagnosis
Electroencephalogram (EEG): features
Magnetic resonance imaging (MRI) brain: features
References
- Oliver KL, Franceschetti S, Milligan CJ, et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. Ann Neurol 2017; 81:677-689.
- Nascimento FA, Andrade DM. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. Epileptic Disord 2016; 18:135-138.
- Muona M, Berkovic SF, Dibbens LM, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet 2015; 47:39-46.
- de Kovel CGF, Syrbe S, Brilstra EH, et al. Neurodevelopmental disorders caused by de novo variants in kcnb1 genotypes and phenotypes. JAMA Neurol 2017; 74:1228-1236.
- Poirier K, Viot G, Lombardi L, Jauny C, Billuart P, Bienvenu T. Loss of Function of KCNC1 is associated with intellectual disability without seizures. Eur J Hum Genet 2017; 25:560-564.
