Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome

ARSLAN E., Ceylaner S., Turanli G.

EPILEPSY & BEHAVIOR CASE REPORTS, cilt.2, ss.196-198, 2014 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 2
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.ebcr.2014.09.007
  • Dergi Adı: EPILEPSY & BEHAVIOR CASE REPORTS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.196-198
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Purpose: Coffin-Lowry syndrome (CLS) is a rare X-linked semidominant syndromic genetic disorder that is characterized by typical facial and radiologic findings, psychomotor and growth retardation, and various skeletal anomalies. A distinctive paroxysmal disorder called stimulus-boundmyoclonus is clinically heterogeneous and is generally characterized by a sudden loss of muscle tone that is regained within a few seconds and is induced by sudden auditory or tactile stimulus. As the pathophysiology of stimulus-induced drop episodes (SIDEs) is not well understood, there is no definite therapy for those episodes.