Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
Evidence-based neurology checklist on congenital myasthenic syndrome with episodic apnoea (cms-ea): Genetic mutations CHAT: this accounts for most cases SLC5A7 RAPSN Myasthenic features Episodic apnoea Obstetric features Other features Triggers for crisis Brain pathology Treatment
Genetic mutations
- CHAT: this accounts for most cases
- SLC5A7
- RAPSN
Myasthenic features
Episodic apnoea
Obstetric features
Other features
Triggers for crisis
Brain pathology
Treatment
References
- McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. J Neurol 2018; 265:194-203.
- Barisic N, Müller JS, Paucic-Kirincic E, et al. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. Eur J Paediatr Neurol 2005; 9:7-12.
- Kraner S, Laufenberg I, Strassburg HM, Sieb JP, Steinlein OK. Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. Arch Neurol 2003; 60:761-763.
- Ohno K, Tsujino A, Brengman JM, et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A 2001; 98:2017-2022.
- Liu ZM, Fang F, Ding CH, et al. Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases. Zhonghua Er Ke Za Zhi 2018; 56:216-220.
Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
- Congenital myasthenic syndrome (CMS): pathway classification
- Congenital myasthenic syndrome (CMS): general features
- Congenital myasthenic syndrome (CMS): DOK7
- Congenital myasthenic syndrome (CMS): MUSK
- Congenital myasthenic syndrome (CMS): RAPSN
- Congenital myasthenic syndrome (CMS): COLQ
- Congenital myasthenic syndrome (CMS): AGRIN
- Congenital myasthenic syndrome (CMS): CHAT
- Congenital myasthenic syndrome (CMS): LAMB2
- Congenital myasthenic syndrome (CMS): GMPPB
- Congenital myasthenic syndrome (CMS): fast channel
- Congenital myasthenic syndrome (CMS): slow channel
- Congenital myasthenic syndrome (CMS): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
- Congenital myasthenic syndromes (CMS) presenting in adulthood
