MEAK
| Classification according to ICD-10 | |
|---|---|
| G40.3 | Generalized idiopathic epilepsy and epileptic syndromes |
| ICD-10 online (WHO version 2019) | |
Meak , acronym for M yoklonus e pilepsie and A taxie by K aliumkanal -Defekt, is a very rare congenital disease with the eponymous main features.
Synonyms are: EPM7; Myoclonus epilepsy and ataxia due to potassium channel defect; Myoclonus epilepsy, progressive, due to KV3.1 deficiency; PME type 7
The first description comes from the year 2015 by the Finnish doctors Mikko Muona, Samuel F. Berkovic, Anna-Elina Lehesjoki and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
The disease are mutations in KCNC1 - gene on chromosome 11 locus p15.1 based encoding a potassium channel.
Clinical manifestations
Clinical criteria are:
- Manifestation in childhood
- increasing myoclonus up to significant restriction of movement
- Tonic-clonic seizure
- (less often) ataxia
In addition, there can be learning difficulties.
Differential diagnosis
Other forms of progressive myoclonus epilepsy are to be distinguished.
Individual evidence
- ↑ a b c Myoclonus epilepsy, progressive, type 7. In: Orphanet (database for rare diseases).
- ↑ M. Muona, SF Berkovic, LM Dibbens, KL Oliver, S. Maljevic, MA Bayly, T. Joensuu, L. Canafoglia, S. Franceschetti, R. Michelucci, S. Markkinen, SE Heron, MS Hildebrand, E. Andermann , F. Andermann, A. Gambardella, P. Tinuper, L. Licchetta, IE Scheffer, C. Criscuolo, A. Filla, E. Ferlazzo, J. Ahmad, A. Ahmad, B. Baykan, E. Said, M. Topcu, P. Riguzzi, MD King, C. Ozkara, DM Andrade, BA Engelsen, A. Crespel, M. Lindenau, E. Lohmann, V. Saletti, J. Massano, M. Privitera, AJ Espay, B. Kauffmann, M. Duchowny, RS Møller, R. Straussberg, Z. Afawi, B. Ben-Zeev, KE Samocha, MJ Daly, S. Petrou, H. Lerche, A. Palotie, AE Lehesjoki: A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. In: Nature genetics. Volume 47, number 1, January 2015, pp. 39-46, doi: 10.1038 / ng.3144 , PMID 25401298 , PMC 4281260 (free full text).
- ↑ Epilepsy, progressive myoclonic 7. In: Online Mendelian Inheritance in Man . (English)
