PURPOSE To evaluate clinical features of probands with juvenile myoclonic epilepsy (JME) and affected members of their families in order to study clinical genetics of JME. METHOD Thirteen unrelated families with at least two members with history of seizures were identified; clinical and genealogic data were collected from JME probands and family members. RESULTS All probands had myoclonic a...

84 patients of juvenile myoclonic epilepsy (JME) of Janz were studied. Diagnosis was confirmed using clinical and electro-encephalographic (EEG) criterias. 58 (78%) patients of JME were referred as 'refractory or uncontrolled seizures'. Ignoring myoclonic episodes and non-use of activation procedures in EEG were important reasons for diagnostic delay. Sodium valproate (VPA) or clonazepam are th...

short arm of chromosome 6.6 Autosomal recessive inheritance has been proposed as its mode of transmission,67 but further confirmation is awaited. At present it seems likely that other factors, possibly other genes, modify the expression of a juvenile myoclonic epilepsy gene on chromosome 6. The recognition that non-pharmacological factors, such as emotional stress, sleep deprivation, alcohol us...

Juvenile myoclonic epilepsy (JME) is a hereditary, idiopathic, generalised epilepsy and is found in 5%-11% of patients with epilepsy. It is characterised by myoclonic jerks, occasional generalised tonic-clonic seizures, and sometimes absence seizures. JME continues to be under-appreciated and under-diagnosed. Accurate diagnosis is important as it usually responds well to treatment with appropri...

The term "myoclonus" has been used to describe heterogeneous phenomena involving sudden movements, but there is no generally accepted, precise definition of myoclonus. Myoclonus can often be classified based on electroencephalographic (EEG) and/or electromyographic (EMG) data. Some myoclonic epilepsy syndromes, including juvenile myoclonic epilepsy, may frequently be misdiagnosed because of fai...

RESULTS A total of 998 vEEGs were undertaken during the study period. Of these, 128 were following a fi rst afebrile seizure: 119/128 were referred by general paediatricians and the remaining 9 by paediatric neurologists. The mean age group was 6.5 years (range 1 month to 17 years). Thirty-four of 128 children had an underlying neurodevelopmental problem. In 11 children, there was a family hist...

In contrast to earlier notions of epilepsy, Théodore Herpin considered that when symptoms started in the periphery or the viscera their origin was in the brain, a view later lauded by Hughlings Jackson. His respected book Des accès incomplets did not attempt to deal with disordered physiology but was designed to help physicians to recognise and treat epilepsy early in its course. He described j...

We report a seizure-related death in a patient with juvenile myoclonic epilepsy 3 months following a previous generalised tonic-clonic seizure complicated by pulmonary oedema. Seizure-related pulmonary oedema is rare but may indicate an increased susceptibility to epilepsy related death. We consider possible preventative measures for patients presenting with seizure-related pulmonary oedema.

To examine the effects of higher mental activity on the EEG, 480 Japanese patients with different types of epilepsy were subjected to potentially provocative cognitive tasking, termed 'neuropsychological EEG activation' (NPA), during standard EEG recordings. NPA tasks consisted of reading, speaking, writing, written arithmetic calculation, mental arithmetic calculation and spatial construction....