Carried by: Defiscience
References:
Clinician(s): Rima NABBOUT
Biologist(s): Gaëtan LESCA
Presentation
- Neonatal or infantile epilepsies associated with neurodevelopmental disorders
- Epilepsies beginning in childhood or adolescence associated with developmental disorders or cognitive regression
- Epilepsies beginning in adulthood and associated with cognitive and neurological regression
- Non-lesional focal epilepsies (excluding focal cortical dysplasias)
- Idiopathic generalized epilepsies (including familial) in the absence of neurodevelopmental disorders (childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, isolated generalized tonic-clonic epilepsy) are not included. focal epilepsies with centro-temporal spikes without neurodevelopmental disorders, and mesio-temporal focal epilepsies with hippocampal sclerosis.
- Metabolic testing and brain MRI can be used to rule out metabolic, structural, or infectious causes.
• Patients initially undergo analysis of the panel of 150 genes involved in monogenic epilepsies (PAGEM), which is normal.
Criteria before considering a discussion in MDM-FMG
- Age of onset of seizures,
- Types of seizures,
- Interictal EEGs and, if available, ictal EEGs,
- Neurological and neurodevelopmental examination,
- Extraneurological abnormalities,
- Brain imaging (MRI),
- Family history of epilepsy or other neurodevelopmental disorders.
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM-FMG Epigenet North
Interregional
Paris (Necker, Trousseau)
MDM-FMG Epigenet South
Interregional
Lyon, Marseille, Strasbourg
Dorothée VILLE
Mathieu MILH
Anne DE SAINT MARTIN