Summary. The 68th Annual Meeting of the American Epilepsy Society is now over and I would like to use this opportunity to look at five epilepsy genetics posters that caught our attention. The genetics posters at AES this year were a mixture of expansion of known phenotypes and some novel genes that might be worth looking at. Continue reading
Tag Archives: parkinsonism
ATP1A3 links alternating hemiplegia of childhood with genetic dystonia and parkinsonism
Alternating Hemiplegia of Childhood (AHC). Acute hemiplegia in children, i.e. weakness of one side of the body, is always a medical emergency. Causes for a sudden hemiplegia can include intracranial bleeds, tumors and rare metabolic disorders. Immediate diagnostic work-up is paramount. In some children, no cause can be found on brain imaging and extensive testing, and the episode remits after hours or days. Strangely, during a following episode, the other side of the body is affected. This condition has been named Alternating Hemiplegia of Childhood (AHC) by Verret and Steele in 1971. AHC is an enigmatic disorder, which is sometimes associated with epilepsy, developmental delay and dystonia. Even though some cases with mutations in SCN1A, CACNA1A, and ATP1A2 have reported, most cases of AHC are unresolved. Given some resemblance with epilepsy and familial hemiplegic migraine, many children with AHC are followed up by epileptologists. The major cause of AHC has now been identified in a recent study… Continue reading