TMEM151A, a new causative gene in paroxysmal kinesigenic dyskinesia
Lisastella Morinelli, Bruno Sterlini, Beatrice Corradi, Luca Maragliano, Pietro Arnaldi, Katia Cortese, Eugenia Rubino, Federico Zara, Anna Corradi · FENS Forum 2024
Mutations in TMEM151A, an almost unknown gene, have been recently found in Paroxysmal Kinesigenic Dyskinesia (PKD), an autosomal dominant movement disorder and in few cases of Benign Familial Infantile Epilepsy (BFIE). The major gene associated to PKD and BFIE is PRRT2. Interestingly, the drug treatment of choice for PKD caused by TMEM151A or PRRT2 mutations is Carbamazepine, a sodium channel blocker. Indeed, PRRT2 has been shown to control neuronal excitability by modulating voltage gated sodium channels. Both PRRT2 and TMEM151A are membrane associated proteins expressed in the nervous system
ePoster · Neuroscience