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Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal seizures. We previously mapped and narrowed a region associated with JME on chromosome 6p12-p11 (EJM1). Here, we describe a new gene in this region, EFHC1, which encodes a protein with an EF-hand motif. Mutation analyses identified five missense mutations in EFHC1 that(More)
Juvenile myoclonic epilepsy is a common subtype of idiopathic epilepsy accounting for 4-11% of all epilepsies. We reported previously significant evidence of linkage between chromosome 6p12-11 microsatellites and the clinical epilepsy and EEG traits of JME families from Belize and Los Angeles. To narrow the JME region, we ascertained and genotyped 31 new(More)
Understanding the latest advances in the molecular genetics of the epilepsies is important, as it provides a basis for comprehending the new practice of epileptology. Epilepsies have traditionally been classified and subtyped on the basis of clinical and neurophysiologic concepts. However, the complexity and variability of phenotypes and overlapping(More)
Although peripheral neuropathy is a fairly common finding in chronic arsenic poisoning, little is known about the acute effects of this metal on peripheral nerves. This report shows clinical and electrophysiological findings in a patient who developed peripheral neuropathy only three days after a high-dose ingestion of this metal due to a failed suicide(More)
Juvenile myoclonic epilepsy (JME) is a distinct form of idiopathic generalized epilepsy (IGE). One of the candidate regions for human JME has been mapped on chromosome band 6p11-p12 by linkage analyses and is termed EJM1 (MIM 254770). Recently, we reported the reduction of the EJM1 region to 3.5cM that contains 18 genes, the exclusion of three genes (LRRC1,(More)
BACKGROUND Patients with proximal forearm and arm transplantation have obtained and/or maintained function of the elbow joint and full active range of motion of the extrinsic muscles of the hand, but with diminished protective sensibility and a lack of good function of the intrinsic muscles. These patients have improved function, as measured by the(More)
Juvenile myoclonic epilepsy (JME) is one of the most frequent hereditary epilepsies characterized by myoclonic and tonic-clonic convulsions beginning at 8-20 years of age. Genetic studies have revealed four major chromosomal loci on 6p21.3, 6p11-12, 6q24, and 15q14 as candidate regions harboring genes responsible for JME. Previously we reported the region(More)
INTRODUCTION The question as to whether an electroencephalogram (EEG) needs to be carried out as a preliminary study in patients with dementia is currently the subject of some controversy. AIMS Our aim was to determine the value of conventional and quantitative analysis of EEG recordings in the treatment of dementia. PATIENTS AND METHODS The EEG(More)
The authors present the case of a 69 year old woman who developed bladder incontinence and confusion. A CT scan showed severe hydrocephalus and calcifications, prompting a ventriculoperitoneal shunt placement. On the day after operation the patient presented left hemifacial spasm. MR revealed a subarachnoid cysticercus rostral to the pons, and surgical(More)
Wernicke's encephalopathy is a disease that when not diagnosed in time, can lead to severe CNS damage and death. It is characterized by specific clinical and radiologic findings; however, there are few reports dealing with the usefulness of neurophysiologic studies in this syndrome. We present a patient with Wernicke's encephalopathy, diagnosed postmortem(More)
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