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March 1, 1993Annals of Neurology

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

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Population

Families with paramyotonia congenita (PC) and hyperkalemic periodic paralysis (HYPP)

Design

Other

Authors

LPLouis J. PtacekHoward Hughes Medical InstituteLGLaunce GouwIntermountain HealthcareHKHubert KwiecińskiGoethe University Frankfurt

Discussion

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Implication

L1433R expands SCN4A spectrum in paramyotonia congenita; hypothesis-generating for genetic panels, with clinical utility unproven.

Structured PICO

P
Population
Families with paramyotonia congenita (PC) and hyperkalemic periodic paralysis (HYPP)
O
Outcome
Identification of sodium channel mutations

Identifies a novel sodium channel mutation (L1433R) associated with paramyotonia congenita, expanding the genetic understanding of periodic paralyses.

Cite This Study

Ptacek et al. (1993) studied this question.

synapsesocial.com/papers/6a87b8023f31f6b699bb556ahttps://doi.org/10.1002/ana.410330312
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene1991 · 105 citations
  2. 2Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel1992 · 181 citations
  3. 3Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.1989 · 3,643 citations
  4. 4DNA sequencing with chain-terminating inhibitors1977 · 69,512 citations
  5. 5Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel1992 · 712 citations