Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita

Broadening the clinical spectrum associated with the T704M mutation in SCN4A

F. Brancati, E. M. Valente, N. P. Davies, A. Sarkozy, M. G. Sweeney, M. LoMonaco, A. Pizzuti, M. G. Hanna, B. Dallapiccola

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

The authors describe an Italian kindred with nine individuals affected by hyperkalaemic periodic paralysis associated with paramyotonia congenita (hyperPP/PMC). Periodic paralysis was particularly severe, with several episodes a day lasting for hours. The onset of episodes was unusually early, beginning in the first year of life and persisting into adult life. The paralytic episodes were refractory to treatment. Patients described minimal paramyotonia, mainly of the eyelids and hands. All affected family members carried the threonine to methionine substitution at codon 704 (T704M) in exon 13 of the skeletal muscle voltage gated sodium channel gene (SCN4A). The association between T704M and the hyperPP/PMC phenotype has been only recently revealed. Nevertheless, such a severe phenotype has never been reported so far in families with either hyperPP or hyperPP/PMC. These data further broaden the clinical spectrum of T704M and support the evidence that this mutation is a common cause of hyperPP/PMC.

Original languageEnglish
Pages (from-to)1339-1341
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume74
Issue number9
DOIs
Publication statusPublished - Sep 1 2003

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Myotonic Disorders
Paralysis
Mutation
Hyperkalemic Periodic Paralysis
Voltage-Gated Sodium Channels
Phenotype
Eyelids
Threonine
Codon
Methionine
Exons
Skeletal Muscle
Hand
Genes

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita : Broadening the clinical spectrum associated with the T704M mutation in SCN4A. / Brancati, F.; Valente, E. M.; Davies, N. P.; Sarkozy, A.; Sweeney, M. G.; LoMonaco, M.; Pizzuti, A.; Hanna, M. G.; Dallapiccola, B.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 74, No. 9, 01.09.2003, p. 1339-1341.

Research output: Contribution to journalArticle

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AU - Pizzuti, A.

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