A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congeni...
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, result in heterogeneous human neurological disorders, including familial and sporadic hemiplegic migraine along with episodic and progressive forms of ataxia. Hemiplegic Migraine (HM) mutations induce gain-of-channel function, mainly by shifting channel...
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Full title
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx
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TN_cdi_plos_journals_1752599848
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1752599848
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0146035
