Temporary diazepam responsive apneic attacks and congenital myasthenic syndrome

Journal of Child Neurology

Volumn 24, Issue 7, 2009, Pages 895-898

  Yiş, Uluç ^a   Kurul, Semra Hiz ^b   Öztura, Ibrahim ^b   Özden, Ömer ^b   Akinci, Gülçin ^b   Dirik, Eray ^b  

^a Gaziantep Children's Hospital   (Turkey)

^b DOKUZ EYLUL UNIVERSITY   (Turkey)

Author keywords

Choline acetyltransferase mutation; Congenital myasthenia; Diazepam; Myopathic electromyography

Indexed keywords

ANTIBIOTIC AGENT; CHOLINE ACETYLTRANSFERASE; DIAZEPAM; ISOLEUCINE; PYRIDOSTIGMINE; THREONINE;

AMINO ACID SUBSTITUTION; APNEA ATTACK; ARTICLE; ARTIFICIAL VENTILATION; ASPIRATION PNEUMONIA; CASE REPORT; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CYANOSIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DRUG EFFICACY; DRUG RESPONSE; ELECTROMYOGRAPHY; FEMALE; HUMAN; HUMAN TISSUE; INFANT; MISSENSE MUTATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PTOSIS; RESPIRATORY DISTRESS; RESPIRATORY TRACT INTUBATION; STRIDOR;

BLEPHAROPTOSIS; CHOLINE O-ACETYLTRANSFERASE; DIAZEPAM; ELECTROMYOGRAPHY; FEMALE; HUMANS; HYPNOTICS AND SEDATIVES; INFANT; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL; RESPIRATORY INSUFFICIENCY; SEQUENCE ANALYSIS, DNA; TREATMENT OUTCOME;

EID: 67949099078     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808331083     Document Type: Article

References (11)

1. Engel A. Myasthenic Syndromes. 2 nd ed. New York, NY: MacGraw-Hill; 1994.
2. Müller JS, Mihaylova V., Abicht A., Lochmüller H. Congenital myasthenic syndromes: Spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med. 2007;9:1-20.
3. Ohno K., Tsujino A., Brengman JM, et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A. 2001;13:2017-2022.
4. Schmidt C., Abicht A., Krampfl K., et al. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromusc Dis. 2003;13:245-251.
5. Kraner S., Laufenberg I., Strafsburg HM, Sieb JP, Steinlein OK Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. Arch Neurol. 2003;60:761-763.
6. Byring RF, Pihko H., Tsujino A., et al. Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. Neuromusc Dis. 2002;12:548-553.
7. Rabie M., Jossiphov J., Nevo Y. Electromyography (EMG) accuracy compared to muscle biopsy in childhood. J Child Neurol. 2007;22:803-808.
8. Kang PB, Lidov HG, David WS, et al. Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenital. Ann Neurol. 2003;54:790-795.
9. Miledi R., Molenaar PC, Polak RL, Tas JW, van der Laaken T. Neural and non-neural acetylcholine in the rat diaphragm. Proc R Soc Lond B Biol Sci. 1982;214:153-168.
10. Hamann M., Chamoin MC, Portalier P., et al. Synthesis and release of an acetylcholine-like compound by human myoblasts and myotubes. J Physiol. 1995;489:791-803.
11. Molenaar PC, van Kempen GT Effect of diazepam on muscle weakness in a model of myasthenia gravis in rats. J Neural Transm Gen Sect. 1993;93:181-185.