MEAK - KCNC1 - Arg320His

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MEAK - KCNC1 - Arg320His Myoclonic Epilepsy and Ataxia Due to Potassium (K+) is a form of progressive myoclonus epilepsy(MEAK)

We had great time meeting up with another MEAK warrior in Philadelphia.
26/07/2024

We had great time meeting up with another MEAK warrior in Philadelphia.

23/07/2024

Charles Large, Autifony CEO, talks to BiotechTV’s Amy Brown about progress in ion channel drug discovery and exciting hopes for novel treatments for rare paediatric epilepsy disorders.

Charles Large, Autifony CEO, talks to BiotechTV’s Amy Brown about progress in ion channel drug discovery and exciting hopes for novel treatments for rare paediatric epilepsy disorders.22 July 2024 Share this entryShare on Twitter https://autifony.com/wp-content/uploads/2022/05/autifony_therapeutic...

MEAK warriors meeting up for the first time in upstate New York!
22/07/2024

MEAK warriors meeting up for the first time in upstate New York!

26/03/2024
Interesting publication related to MEAK and KCNC1 related variants.
24/05/2023

Interesting publication related to MEAK and KCNC1 related variants.

Variable phenotypes, including developmental encephalopathy with (DEE) or without (DE) seizures and myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK), are caused by pathogenetic variants in KCNC1, encoding for Kv3.1 channel subunits. In vitro, channels carrying most KCNC1 pathog...

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