The intrinsic electrical characteristics of different types of neurons are shaped by the K+
channels they express. From among the more than 70 different K+ channel genes …

Ion channels are crucial in the generation and modulation of excitability in the nervous
system and have been implicated in human epilepsy. Forty-one epilepsy-associated ion …

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-
function or a gain-of-function of the voltage-gated K+ channel Kv1. 2, were described to …

Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with
early onset, profound impairment, and movement disorder. Methods: A case series of 9 …

Objective Perampanel (PER) was used in 12 patients with Unverricht‐Lundborg disease
(ULD) to evaluate its efficacy against myoclonus and seizures. Methods We treated 11 …

Voltage-gated potassium channels play a key role in human physiology and pathology.
Reflecting their importance, numerous channelopathies have been characterised that arise …

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

Objective: To describe electroclinical features and outcome of 6 patients harboring KCNB1
mutations. Methods: Clinical, EEG, neuropsychological, and brain MRI data analysis …

Next-generation sequencing (NGS) has contributed to the identification of many monogenic
epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of …

The inner mitochondrial membrane (IM) is among the most protein-rich cellular
compartments. The metastable IM subproteome where the concentration of proteins is …