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

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

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-bound myoclonus is clinically heterogeneous and is generally characterized by a sudden loss of muscle tone that is rega...

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Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam

RATIONALE Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we rep...

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A Patient with Genetically Confirmed Myoclonus-Dystonia Responded to Anticholinergic Treatment and Improved Spontaneously

BACKGROUND The various medical treatments applied to myoclonus-dystonia patients with a mutation of the ε-sarcoglycan gene (SGCE) have not been beneficial in most cases. Most patients experience progressive deterioration or static clinical courses, with only rare cases of spontaneous remission. CASE REPORT A 19-year-old girl presented with a 14-year history of myoclonus and dystonia that seve...

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Stimulus-sensitive spinal myoclonus.

Two cases of spinal myoclonus are described; in both patients myoclonus was responsive to stimuli and absent during sleep. The first patient was considered to have viral neuronitis and the condition resolved spontaneously. The second patient had spinal cord ischaemia; there was electro-physiological evidence of abnormal alpha motor neurone activity and histological study of the spinal cord reve...

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ژورنال

عنوان ژورنال: Epilepsy & Behavior Case Reports

سال: 2014

ISSN: 2213-3232

DOI: 10.1016/j.ebcr.2014.09.007