Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

Maria Bestue-Cardiel, A. Saenz De Cabezon-Alvarez, J. L. Capablo-Liesa, J. López-Pisón, J. L. Peña-Segura, J. Martin-Martinez, Andrew G Engel

Research output: Contribution to journalArticle

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Abstract

The authors describe two patients with congenital myasthenic syndrome (CMS) with end plate acetylcholinesterase (AChE) deficiency caused by mutations in the collagenic tail (ColQ) of AChE: a homozygous C-terminal Y230S mutation in Patient 1 and Y430S and a C-terminal splice-site mutation in Patient 2. In Patient 1, a Prostigmin (neostigmine bromide) test failed to distinguish between AChE deficiency and a slow-channel CMS. Both patients responded dramatically to ephedrine therapy.

Original languageEnglish (US)
Pages (from-to)144-146
Number of pages3
JournalNeurology
Volume65
Issue number1
DOIs
StatePublished - Jul 12 2005

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Ephedrine
Acetylcholinesterase
Congenital Myasthenic Syndromes
Neostigmine
Mutation
Endplate Acetylcholinesterase Deficiency

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bestue-Cardiel, M., Saenz De Cabezon-Alvarez, A., Capablo-Liesa, J. L., López-Pisón, J., Peña-Segura, J. L., Martin-Martinez, J., & Engel, A. G. (2005). Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. Neurology, 65(1), 144-146. https://doi.org/10.1212/01.wnl.0000167132.35865.31

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. / Bestue-Cardiel, Maria; Saenz De Cabezon-Alvarez, A.; Capablo-Liesa, J. L.; López-Pisón, J.; Peña-Segura, J. L.; Martin-Martinez, J.; Engel, Andrew G.

In: Neurology, Vol. 65, No. 1, 12.07.2005, p. 144-146.

Research output: Contribution to journalArticle

Bestue-Cardiel, M, Saenz De Cabezon-Alvarez, A, Capablo-Liesa, JL, López-Pisón, J, Peña-Segura, JL, Martin-Martinez, J & Engel, AG 2005, 'Congenital endplate acetylcholinesterase deficiency responsive to ephedrine', Neurology, vol. 65, no. 1, pp. 144-146. https://doi.org/10.1212/01.wnl.0000167132.35865.31
Bestue-Cardiel M, Saenz De Cabezon-Alvarez A, Capablo-Liesa JL, López-Pisón J, Peña-Segura JL, Martin-Martinez J et al. Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. Neurology. 2005 Jul 12;65(1):144-146. https://doi.org/10.1212/01.wnl.0000167132.35865.31
Bestue-Cardiel, Maria ; Saenz De Cabezon-Alvarez, A. ; Capablo-Liesa, J. L. ; López-Pisón, J. ; Peña-Segura, J. L. ; Martin-Martinez, J. ; Engel, Andrew G. / Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. In: Neurology. 2005 ; Vol. 65, No. 1. pp. 144-146.
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