Voltage-gated potassium channels and the diversity of electrical signalling.
San Francisco, United States. In J Physiol, 2012
As one indication of the evolutionary conservation of Kv1 channel functions, mutations of the Shaker potassium channel gene in Drosophila and the KCNA1 gene for its mammalian orthologue, Kv1.1, cause hyperexcitability near axon branch points and nerve terminals, thereby leading to uncontrolled movements and recapitulating the episodic ataxia-1 (EA1) symptoms in human patients.
Kv1.1 and Kv1.2: similar channels, different seizure models.
Seattle, United States. In Epilepsia, 2012
Overlapping patterns with differential expression and precise localization of Kv1.1 and Kv1.2 channels targeted to specialized subcellular compartments contribute to distinctive patterns of neuronal excitability --REVIEW
Episodic ataxias 1 and 2.
Los Angeles, United States. In Handb Clin Neurol, 2011
This study suggested that kcna1 missense mutation have been related to Episodic ataxias 1.
[Hereditary episodic ataxia].
Paris, France. In Rev Neurol (paris), 2011
EA1 is caused by mutations of the KCNA1 gene coding for the voltage-gated potassium channel Kv1.1.
Medulloblastoma comprises four distinct molecular variants.
Toronto, Canada. In J Clin Oncol, 2011
integrative genomics approach to a large cohort of medulloblastomas has identified four disparate subgroups (KCNA1)with distinct demographics, clinical presentation, transcriptional profiles, genetic abnormalities, and clinical outcome.
Episodic Ataxia Type 1
Seattle, United States. In Unknown Journal, 2010
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and molecular genetic testing of KCNA1, the only gene in which mutations are known to cause EA1.