First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Conclusions:
We identified a de novo KCND3 mutation causing the most marked change in Kv4.3’s channel properties reported so far, which correlated with a severe and unique spinocerebellar ataxia (SCA) type 19/22 disease phenotype.

Source: BioMed Central - July 20, 2015 Category: Journals (General) Authors: Katrien SmetsAnna DuarriTine DeconinckBerten CeulemansBart van de WarrenburgStephan ZüchnerMichael GonzalezRebecca SchüleMatthis SynofzikNathalie Van der AaPeter De JongheDineke VerbeekJonathan Baets Source Type: research