Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Survey.
- Who it may be relevant to
- Registry conditions: Epileptic Encephalopathy. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). EOEE are rare and severe epileptic syndromes characterized by epilepsy that begins within the first three months of life and is associated with rapid deterioration of motor, cognitive and behavioral skills. There is a genetic basis for the EOEE. Together with other laboratories, the investigators have identified de novo pathogenic variants in the KCNQ2 gene encoding the Kv7.2 subunit of the Kv7 / M potassium channel, a channel known to control neuronal excitability in the brain and spinal cord. via the current M (IM). Pathogenic variants of the KCNQ2 gene represent the main cause of EOEE and the term KCNQ2-related epileptic encephalopathy (KCNQ2-REE) is now used to define this condition. KCNQ2-REE patients have a remarkably homogeneous phenotype at the start, with epilepsy that begins in the first days after birth, seizures that result in tonic muscle spasms that last from 1 to 10 seconds, and an interictal EEG called "suppression-burst". "That is, paroxysmal bursts of activity interspersed with periods of electrical silence. In this group, more than 50% of the patients present a remission of the epilepsy and a quasi-normalization of the EEG which can occur a few weeks to several months after the onset of the seizures. Despite this positive evolution in terms of seizures, the developmental progression is abnormal and the phenotype is severe with an absence of language, autistic behavior and a subsequent development of motor disorders such as diplegia, spasticity, ataxia or dystonia. The ambition of this project is to increase knowledge of epileptic encephalopathies linked to KCNQ2 at the clinical and molecular levels, to decipher the pathophysiological mechanisms and to propose therapeutic strategies. This project aims to better describe the clinical, EEG, imaging, developmental and long-term follow-up characteristics of patients carrying the KCNQ2 mutation identified in the laboratory.
Interventions
- Other Survey
directive questionnaire administered during an individual face-to-face interview
Primary outcome measures
- importance of the developmental disorder [Time frame: Month 36]
- definition of the active phase of epilepsy [Time frame: Month 36]
Eligibility criteria
Inclusion criteria
- Epilepsy beginning before 1 month of life, and requiring the initiation of anti-epileptic treatment
- Without occasional cause
- Without brain malformation explaining epilepsy
- No opposition from parents / guardians
- Possibility for parents to complete parent questionnaires
Exclusion criteria
- Neonatal attacks of occasional cause (glycemic disorder, infection, etc.)
- Acquired neonatal epilepsy (post-anoxic encephalopathy, stroke sequelae, etc.)
- Neonatal epilepsy related to a brain malformation
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 15 centers
- CHU Angers — Angers
- CHU Bordeaux — Bordeaux
- CHU Brest — Brest
- CHRU Lille — Lille
- CHU Limoges — Limoges
- Hospices Civils Lyon — Lyon
- Hôpital La Timone — Marseille
- CHU Montpellier — Montpellier
- … and 7 more centers
Identifiers
NCT: NCT04802135 · 2019-51 · ID-RCB