Abstract | BACKGROUND: CASE: We describe a familial case of normoKPP wherein the affected individuals showed periodic muscle weakness attacks, with an early childhood onset, and a lack of serum potassium level variation during the paralytic attacks. Sequencing analysis of SCN4A gene revealed a heterozygous missense mutation (c. 2111C > T, p. Thr704Met) in all symptomatic family members. Oral administration of hydrochlorothiazide, a thiazide diuretic, markedly improved the paralytic attack frequency and duration in the affected individuals without adverse effects. CONCLUSION: Our case demonstrates the efficacy of hydrochlorothiazide in the prophylactic treatment of normoKPP caused by the SCN4A mutation of p.Thr704Met, the most frequent mutation of hyperKPP.
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Authors | Yuichi Akaba, Satoru Takahashi, Yoshiaki Sasaki, Hiroki Kajino |
Journal | Brain & development
(Brain Dev)
Vol. 40
Issue 9
Pg. 833-836
(Oct 2018)
ISSN: 1872-7131 [Electronic] Netherlands |
PMID | 29907477
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Chemical References |
- NAV1.4 Voltage-Gated Sodium Channel
- SCN4A protein, human
- Sodium Chloride Symporter Inhibitors
- Hydrochlorothiazide
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Topics |
- Administration, Oral
- Child
- Diagnosis, Differential
- Family
- Female
- Humans
- Hydrochlorothiazide
(therapeutic use)
- Mutation, Missense
- NAV1.4 Voltage-Gated Sodium Channel
(genetics)
- Paralyses, Familial Periodic
(diagnostic imaging, genetics, physiopathology)
- Sodium Chloride Symporter Inhibitors
(therapeutic use)
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