作者: Ilo E. Leppik
DOI: 10.1046/J.1528-1157.44.S11.4.X
关键词: Progressive myoclonus epilepsy 、 Myoclonic epilepsy 、 Myoclonus 、 Epilepsy 、 Genetic testing 、 Pediatrics 、 Psychiatry 、 Medicine 、 Epilepsy syndromes 、 Medical diagnosis 、 Neurological disorder
摘要: The myoclonic epilepsies are a collection of syndromes in which seizures prominent feature. Proper classification patient's syndrome is critical for appropriate treatment and prognosis. However, such often difficult because the terminology used to describe can be confusing inconsistent. Myoclonic epilepsy epileptic or nonepileptic also divided into inherited acquired forms. Progressive (PME) most severe epilepsies. Diagnosis PME on clinical grounds difficult, but advances genetic testing have made diagnoses more accurate. Some other benign identified gene markers, aid diagnosis. To accurately classify syndrome, clinicians should use all available laboratory tools appropriately. Improved accuracy diagnosis patients with lead dependable prognoses effective treatment.