Ataxia and myoclonic epilepsy due to a heterozygous new mutation inKCNA2: proposal for a new channelopathy-Reference-Cited by-同舟云学术

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Ataxia and myoclonic epilepsy due to a heterozygous new mutation inKCNA2: proposal for a new channelopathy

Published:2015-01-19 Issue:2 Volume:87 Page:e1-e3
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Pena S.D.J.¹²,Coimbra R.L.M.³

Affiliation:

1. GENE - Nucleo de Genetica Medica; Belo Horizonte Brazil

2. Laboratorio de Genomica Clinica (LGC) of the Faculdade de Medicina; Universidade Federal de Minas Gerais; Belo Horizonte Brazil

3. Departamento de Clínica Médica of the Faculdade de Medicina; Universidade Estadual de Londrina; Londrina Brazil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, golgi and endoplasmic reticulum damage;Ferrer;Hum Mol Genet,2005

2. Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores;Tombola;Neuron,2005

3. Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2;Delemotte;Biophys J,2010

4. Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons;Brew;J Neurophysiol,2007

5. A new Kv1.2 channelopathy underlying cerebellar ataxia;Xie;J Biol Chem,2010

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1. Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia;Molecular Genetics and Metabolism;2024-08

2. Regulation of Kv1.2 redox-sensitive gating by the transmembrane lectin LMAN2;2024-07-13

3. Molecular dissection of an immunodominant epitope in Kv1.2-exclusive autoimmunity;Frontiers in Immunology;2024-04-11

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5. Epilepsies;Handbook of Clinical Neurology;2024

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