|(A;T)||8||Dravet syndrome and severe epileptic seizure syndrome(s) possible|
This mutation is reported in at least two publications as leading to Severe myoclonic epilepsy in infancy (SMEI), also known as Dravet syndrome and epileptic encephalopathy, all of which are inherited dominantly although they can and do arise from de novo mutations as well.[PMID 16713920][PMID 17347258]
Note that this mutation is the basis of the Williams v Quest/Athena case, in which a mother accuses Athena of misclassifying this mutation (in her infant son, who eventually died of complications following a seizure) as a variant of unknown significance (VUS) rather than as disease-causing.
|Disease||Severe myoclonic epilepsy in infancy|
|CLNDBN||Severe myoclonic epilepsy in infancy|
|CLNSRC||UniProtKB (protein) UniProtKB (variants)|