Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Next-generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation remains challenging. Moreover, copy number variations (CNV) or dynamic expansions of repeated sequence are classically considered not adequately detected by exome sequencing technique.

Natural history of LGMD2A for delineating outcome measures in clinical trials.

Objective: Limb-girdle muscular dystophy 2A (LGMD2A, OMIM) is a slowly progressive myopathy caused by the deficiency in calpain 3, a calcium-dependent cysteine protease of the skeletal muscle.

Methods: In this study, we carried out an observational study of clinical manifestations and disease progression in genetically confirmed LGMD2A patients for up to 4 years. A total of 85 patients, aged 14-65 years, were recruited in three centers located in metropolitan France, the Basque country, and the Reunion Island.

First-ever population-based study on status epilepticus in French Island of La Reunion (France) - incidence and fatality.

Purpose: We aimed to determine the incidence and case-fatality of first-ever status epilepticus (SE) among the general population living in La Reunion Island, a French overseas territory in the Indian Ocean near Madagascar.

Methods: We recruited cases (1st July 2004-30th June 2005) in a population-based manner using neurology, neurosurgery, electroencephalogram, emergency, paediatric and neuroradiology services; emergency medical aid service; emergency and admission service of private and public clinics; neurologists (public and private); private paediatricians and practitioners of various rural hospitals. All cases had an electroencephalogram (EEG) and were assessed by an epileptologist.

Newly-diagnosed epileptic seizures in three populations: Geneva (EPIGEN), Martinique (EPIMART), and the Reunion Island (EPIREUN).

Aim: The objective was to analyse and discuss data from three studies of newly-diagnosed epileptic seizures (provoked and unprovoked) conducted in Geneva, Martinique, and the Reunion Island, in which the same methodology was used.

Methods: We extracted data from three studies in which the incidence of seizures was estimated and aetiologies identified. Data was extracted and analysed using STATA.

Newly diagnosed epileptic seizures: focus on an elderly population on the French island of Réunion in the Southern Indian Ocean.

Purpose: To describe seizure types and risk factors among elderly people with newly diagnosed epileptic seizures living on La Réunion, a French Island in the Southern Indian Ocean.

Methods: We describe an elderly population with newly diagnosed epileptic seizures using data from the EPIREUN study conducted between July 1, 2004 and June 30, 2005. The methodology is described in detail in the EPIREUN study report (Mignard et al.

Incidence of newly diagnosed epileptic seizures in a French South Indian Ocean Island, La Réunion (EPIREUN).

Purpose: To assess the incidence of newly diagnosed epileptic seizures in the population of La Réunion.

Methods: From July 1, 2004 to June 30, 2005, we conducted a prospective, observational, and multicenter epidemiologic study to identify patients with newly diagnosed epileptic seizures. Febrile and neonatal seizures were excluded.