Kv3 channels: enablers of rapid firing, neurotransmitter release, and neuronal endurance

LK Kaczmarek, Y Zhang - Physiological reviews, 2017 - journals.physiology.org
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 …

Spinocerebellar ataxias (SCAs) caused by common mutations

U Müller - neurogenetics, 2021 - Springer
The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal
dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in …

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

MF Elsaid, N Chalhoub, T Ben‐Omran… - Annals of …, 2017 - Wiley Online Library
Objective Exome sequences account for only 2% of the genome and may overlook
mutations causing disease. To obtain a more complete view, whole genome sequencing …

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

J Park, M Koko, UBS Hedrich… - Annals of clinical …, 2019 - Wiley Online Library
A recurrent de novo missense variant in KCNC1, encoding a voltage‐gated potassium
channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and …

Nonprogressive congenital ataxias

E Bertini, G Zanni, E Boltshauser - Handbook of clinical neurology, 2018 - Elsevier
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and
genetically heterogeneous group of disorders characterized by congenital or early-onset …

Intellectual disability and potassium channelopathies: a systematic review

M Kessi, B Chen, J Peng, Y Tang, E Olatoutou… - Frontiers in …, 2020 - frontiersin.org
Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual
function and adaptive behavior. The role of potassium channelopathies in ID is poorly …

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

EAR Nibbeling, CCS Delnooz, TJ de Koning… - Neuroscience & …, 2017 - Elsevier
In this review we explore the similarities between spinocerebellar ataxias and dystonias,
and suggest potentially shared molecular pathways using a gene co-expression network …

Pore size matters for potassium channel conductance

D Naranjo, H Moldenhauer, M Pincuntureo… - Journal of General …, 2016 - rupress.org
Ion channels are membrane proteins that mediate efficient ion transport across the
hydrophobic core of cell membranes, an unlikely process in their absence. K+ channels …

Kv3. 3 potassium channels and spinocerebellar ataxia

Y Zhang, LK Kaczmarek - The Journal of physiology, 2016 - Wiley Online Library
The voltage‐dependent potassium channel subunit Kv3. 3 is expressed at high levels in
cerebellar Purkinje cells, in auditory brainstem nuclei and in many other neurons capable of …

Kv4. 2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening

MA Lin, SC Cannon… - Proceedings of the …, 2018 - National Acad Sciences
A de novo mutation in the KCND2 gene, which encodes the Kv4. 2 K+ channel, was
identified in twin boys with intractable, infant-onset epilepsy and autism. Kv4. 2 channels …