Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Background: In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis.

Methods: Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family members. We screened an additional 310 patients with this disorder for variants on DNA melting-curve analysis and targeted real-time DNA sequencing of the gene encoding intestinal-cell kinase ( ICK).

[Time from motor symptoms onset to diagnosis of Parkinson's disease in Mexico].

Introduction: Parkinson's disease is characterized by a wide spectrum of motor and non-motor symptoms with an insidious onset. Identification of these symptoms by the patient as well as by the physician is determinant in order to achieve an early diagnosis.

Objective: To determine the time from motor symptoms onset to the diagnosis of Parkinson's disease and analyze the clinical and demographic factors related to it.

[Profile characterization of Parkinson's disease in Mexico: ReMePARK study].

Introduction: The Mexican Registry of Parkinson´s disease (ReMePARK) is nested within a multicentric cohort aimed to describe motor, non-motor, and genetic determinants of Parkinson's disease in Mexican patients.

Material And Methods: To date, clinical and demographic data from 1,083 subjects has been obtained. Here we present the demographic and clinical data of the current sample along with its comparison with international reports.

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

Purpose: The purpose of this study was to identify the prevalence of mutations in the Myoclonin1/EFHC1 gene in Mexican patients with juvenile myoclonic epilepsy (JME).

Method: We studied forty-one patients at the National Institute of Neurology and Neurosurgery in Mexico City and 100 healthy controls. DNA was extracted from the peripheral venous blood of all participants.

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

Purpose: Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation-harboring Mendelian gene that encodes a protein with one EF-hand motif (EFHC1) in chromosome 6p12. We observed one doubly heterozygous and three heterozygous missense mutations in EFHC1 segregating as an autosomal dominant gene with 21 affected members of six Hispanic JME families from California and Mexico.

Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.

The 2001 classification subcommittee of the International League Against Epilepsy (ILAE) proposed to 'group JME, juvenile absence epilepsy, and epilepsy with tonic clonic seizures only under the sole heading of idiopathic generalized epilepsies (IGE) with variable phenotype'. The implication is that juvenile myoclonic epilepsy (JME) does not exist as the sole phenotype of family members and that it should no longer be classified by itself or considered a distinct disease entity. Although recognized as a common form of epilepsy and presumed to be a lifelong trait, a long-term follow-up of JME has not been performed.

Seizures of idiopathic generalized epilepsies.

Idiopathic generalized epilepsies (IGEs) comprise at least 40% of epilepsies in the United States, 20% in Mexico, and 8% in Central America. Here, we review seizure phenotypes across IGE syndromes, their response to treatment and advances in molecular genetics that influence nosology. Our review included the Medline database from 1945 to 2005 and our prospectively collected Genetic Epilepsy Studies (GENESS) Consortium database.