Journal
NEUROLOGY
Volume 72, Issue 18, Pages 1544-1547Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000342387.65477.46
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Funding
- MRC Centre [G0601943]
- National Center for Research Resources [5U54 RR019498-05]
- Department of Health (NCG)
- Neurogenetic Unit at the National Hospital for Neurology and Neurosurgery
- MRC [G0601943, G0601440, G116/147, G0200373] Funding Source: UKRI
- Medical Research Council [G0200373, G116/147, G0601440, G0601943] Funding Source: researchfish
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Background: Several missense mutations of CACNA1S and SCN4A genes occur in hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage sensors of the channel. Approximately 20% of cases remain genetically undefined. Methods: We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis. Results: We identified reported CACNA1S mutations in 64 cases. In the remaining 19 cases, mutations in SCN4A or other CACNA1S S4 segments were found in 10, including three novel changes and the first mutations in channel domains I (SCN4A) and III (CACNA1S). Conclusions: All mutations affected arginine residues, consistent with the gating pore cation leak hypothesis of hypokalemic periodic paralysis. Arginine mutations in S4 segments underlie 90% of hypokalemic periodic paralysis cases. Neurology (R) 2009;72:1544-1547
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