Schorge, Stephanie,

Functional insights from genetic channelopathies [electronic resource] / Stephanie Schorge. - London : Henry Stewart Talks, 2014. - 1 online resource (1 streaming video file (50 min.) : color, sound). - The genetic basis of neurological disorders, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Genetic basis of neurological disorders. .

Animated audio-visual presentation with synchronized narration. Title from title frames.

Contents: Channelopathies in the Genomic Era -- Introduction to ion channels -- The example of Hyperekplexia -- Transcriptional regulation defects of ion channels are associated with cases of schizophrenia and epilepsy -- Ion channels mRNA processing in myotonia congenita and epilepsy -- Ion channel misfolding and episodic ataxia type 1 -- Ion channel mistrafficking and epilepsy -- Ion channel degradation and Spinocerebellar ataxia type 6 -- concluding remarks.

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Mode of access: World Wide Web.

3728 Henry Stewart Talks


Epilepsy--Genetic aspects.
Ion channels.
Nervous system--Diseases--Genetic aspects.
Ataxia--genetics.
Ataxia--physiopathology.
Channelopathies.
Epilepsy--genetics.
Epilepsy--physiopathology.
Ion Channels--genetics.
Ion Channels--physiology.
Myotonia Congenita.
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