Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …

A recurrent de novo missense variant in KCNC1, encoding a voltage‐gated potassium
channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and …

Objective To comprehensively describe the new syndrome of myoclonus epilepsy and
ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological …

Autosomal dominant mutations in the sodium‐gated potassium channel subunit gene KCNT
1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy …

Objective We investigated a large consanguineous Moroccan family with progressive
myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the …

Progressive myoclonus epilepsy type 1 (EPM1, also known as Unverricht-Lundborg
disease) is an autosomal recessive disorder characterized by progressively worsening …

Potassium channel mutations have been described in episodic neurological diseases. We
report that K+ channel mutations cause disease phenotypes with neurodevelopmental and …

Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically
and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and …

Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1; MIM 254800) is an
autosomal recessive disorder that occurs with a low frequency in many populations but is …

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1),
have been associated with a spectrum of epilepsies and neurodevelopmental disorders …