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Diagnosis of epilepsy (Panel)

Laboratoire de génétique moléculaire
Département de génétique médicale
CHU de Marseille - Hôpital de la Timone
264 rue Saint-Pierre
13005 MARSEILLE
FRANCE
Director of laboratory : Dr Martin KRAHN
More information

Phone : 33 (0)4 91 38 77 87
Additional Phone : -
Fax : 33 (0)4 91 38 46 73
Website

Last update: June 2022

Responsible of diagnostic test

Dr Laurent VILLARD

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (87)

1q44 microdeletion syndrome

2q37 microdeletion syndrome

5q14.3 microdeletion syndrome

AICA-ribosiduria

Action myoclonus-renal failure syndrome

Adenylosuccinate lyase deficiency

Alpers-Huttenlocher syndrome

Angelman syndrome due to a point mutation

Angelman syndrome due to imprinting defect in 15q11-q13

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to paternal uniparental disomy of chromosome 15

Atypical Rett syndrome

Autosomal dominant epilepsy with auditory features

Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant non-syndromic intellectual disability

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive non-syndromic intellectual disability

Benign familial infantile epilepsy

Benign familial mesial temporal lobe epilepsy

Benign familial neonatal epilepsy

Benign familial neonatal-infantile seizures

Bilateral generalized polymicrogyria

Biotinidase deficiency

Childhood absence epilepsy

Christianson syndrome

Classic glucose transporter type 1 deficiency syndrome

Continuous spikes and waves during sleep

Corpus callosum agenesis-abnormal genitalia syndrome

Dravet syndrome

Early infantile epileptic encephalopathy

Early myoclonic encephalopathy

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Familial focal epilepsy with variable foci

Familial infantile myoclonic epilepsy

Familial mesial temporal lobe epilepsy with febrile seizures

Familial or sporadic hemiplegic migraine

Female restricted epilepsy with intellectual disability

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

GM3 synthase deficiency

Generalized epilepsy with febrile seizures-plus

Hereditary cryohydrocytosis with reduced stomatin

Hyperekplexia-epilepsy syndrome

Infantile convulsions and choreoathetosis

Infantile epileptic-dyskinetic encephalopathy

Infantile spasms syndrome

Juvenile myoclonic epilepsy

KCNQ2-related epileptic encephalopathy

Landau-Kleffner syndrome

Lennox-Gastaut syndrome

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Malignant migrating focal seizures of infancy

Microduplication Xp11.22p11.23 syndrome

Mitochondrial neurogastrointestinal encephalomyopathy

Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Myoclonic-astatic epilepsy

Neurodegenerative syndrome due to cerebral folate transport deficiency

Non-specific early-onset epileptic encephalopathy

Non-specific syndromic intellectual disability

Partington syndrome

Pitt-Hopkins syndrome

Progressive myoclonic epilepsy type 1

Progressive myoclonic epilepsy type 3

Progressive myoclonic epilepsy type 5

Progressive myoclonic epilepsy type 6

Progressive myoclonic epilepsy with dystonia

Proximal Xq28 duplication syndrome

Pyridoxal phosphate-responsive seizures

Pyridoxine-dependent epilepsy

Rolandic epilepsy

Rolandic epilepsy-speech dyspraxia syndrome

STXBP1-related encephalopathy

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

Severe neonatal-onset encephalopathy with microcephaly

Spinocerebellar ataxia with epilepsy

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked intellectual disability, Najm type

X-linked intellectual disability-psychosis-macroorchidism syndrome

X-linked lissencephaly with abnormal genitalia

X-linked non-syndromic intellectual disability

X-linked spasticity-intellectual disability-epilepsy syndrome

List of genes tested (including panels) (144)

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.