Investigators from the University Leipzig and University of Tübingen report mutations of <em>KCNA2</em> as a novel cause of epileptic encephalopathy
Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been descr...
International audienceBACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic hetero...
Kv1.2 channels, encoded by the KCNA2 gene, are localized in the central and peripheral nervous syste...
peer reviewedEpileptic encephalopathies are a phenotypically and genetically heterogeneous group of ...
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function o...
Researchers at Scripps Research Institute, San Diego, and other centers in California; Johns Hopkins...
OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures...
Key pointsKV 1.2 channels, encoded by the KCNA2 gene, regulate neuronal excitability by conducting K...
Understanding the pathophysiological consequences of different ion-channel encoding gene mutations i...
The fulltext of this publication will be made publicly available after relevant embargo periods have...
An increasing number of developmental and epileptic encephalopathies have been correlated with varia...
Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizur...
Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic enceph...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding a2d-2 subunit of Vo...
KCNT2 variants resulting in substitutions affecting the Arg190 residue have been shown to cause epil...
Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been descr...
International audienceBACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic hetero...
Kv1.2 channels, encoded by the KCNA2 gene, are localized in the central and peripheral nervous syste...
peer reviewedEpileptic encephalopathies are a phenotypically and genetically heterogeneous group of ...
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function o...
Researchers at Scripps Research Institute, San Diego, and other centers in California; Johns Hopkins...
OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures...
Key pointsKV 1.2 channels, encoded by the KCNA2 gene, regulate neuronal excitability by conducting K...
Understanding the pathophysiological consequences of different ion-channel encoding gene mutations i...
The fulltext of this publication will be made publicly available after relevant embargo periods have...
An increasing number of developmental and epileptic encephalopathies have been correlated with varia...
Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizur...
Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic enceph...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding a2d-2 subunit of Vo...
KCNT2 variants resulting in substitutions affecting the Arg190 residue have been shown to cause epil...
Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been descr...
International audienceBACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic hetero...
Kv1.2 channels, encoded by the KCNA2 gene, are localized in the central and peripheral nervous syste...
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