AHC. Amongst the various episodic neurological disorders of childhood, alternating hemiplegia of childhood (AHC) is one of the most mysterious conditions. AHC is characterized by transient hemiplegic attacks and a wide range of other neurological features including dystonic attacks, seizures, neurodevelopmental features, and autonomic symptoms. Recurrent de novo variants in ATP1A3 represent the most common cause of AHC, even though a small subset of individuals have disease-causing variants in other genes. In a recent paper, de novo variants in CLDN5 were identified. In contrast to known causes of AHC, CLDN5 implicates an entirely new disease mechanism – disruptions of the blood-brain barrier. Continue reading
Tag Archives: CLDN5
This was epilepsy genetics in 2022
Looking back. This is our final blog post for 2022 and a good opportunity to look back at what happened in the last 12 months in epilepsy genetics. In brief, it was a busy time and if I were to look back at 2022 in a few years, I would probably characterize this year as a transitional year. Antisense oligonucleotides, gene therapies, and other novel treatments are on the horizon, but the field is not quite there yet. For this blog post, I would like to put the focus on five discoveries in 2022 that did not receive as much attention on our blog as they probably should have. Continue reading