Autosomal recessive cortical myoclonic tremor and epilepsy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal recessive cortical myoclonic tremor and epilepsy. This is caused by mutations in the CNTN2 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the CNTN2 gene
Clinical features
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Treatment
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Investigations
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References
- Stogmann E, Reinthaler E, Eltawil S, et al. Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain 2013; 136:1155-1160.
- Striano P, Zara F, Striano S, Minetti C. Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. Brain 2013; 136:e253.
