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Diagnosis of epilepsy (Panel)

Laboratoire de cytogénétique constitutionnelle
Centre de Biologie et Pathologie Est
CHU de Lyon HCL - GH Est
59 Boulevard Pinel
69677 BRON CEDEX
FRANCE
Director of laboratory : Dr Caroline SCHLUTH BOLARD
More information

Phone : 33 (0)4 72 12 96 39
Additional Phone : -
Fax : 33 (0)4 72 12 97 10

Last update: February 2019

Responsible of diagnostic test

Pr Gaëtan LESCA

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 (75)

Action myoclonus-renal failure syndrome

Alpers-Huttenlocher syndrome

Alternating hemiplegia of childhood

Angelman syndrome due to a point mutation

Atypical Rett syndrome

Autosomal dominant epilepsy with auditory features

Autosomal dominant nocturnal frontal lobe epilepsy

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

Benign familial infantile epilepsy

Benign familial mesial temporal lobe epilepsy

Benign familial neonatal epilepsy

Benign familial neonatal-infantile seizures

Childhood absence epilepsy

Classic glucose transporter type 1 deficiency syndrome

Continuous spikes and waves during sleep

Corpus callosum agenesis-abnormal genitalia syndrome

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Dravet syndrome

Early infantile epileptic encephalopathy

Early myoclonic encephalopathy

Early-onset Lafora body disease

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

Hereditary hyperekplexia

Hyperprolinemia type 2

Infantile convulsions and choreoathetosis

Infantile epileptic-dyskinetic encephalopathy

Infantile spasms syndrome

Isolated focal cortical dysplasia type IIa

Isolated focal cortical dysplasia type IIb

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

Mitochondrial neurogastrointestinal encephalomyopathy

Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Myoclonic-astatic epilepsy

Non-specific early-onset epileptic encephalopathy

Partington syndrome

Periventricular nodular heterotopia

Progressive myoclonic epilepsy type 1

Progressive myoclonic epilepsy type 3

Progressive myoclonic epilepsy type 5

Progressive myoclonic epilepsy type 6

Progressive myoclonic epilepsy type 7

Progressive myoclonic epilepsy with dystonia

Pyridoxal phosphate-responsive seizures

Pyridoxine-dependent epilepsy

Rolandic epilepsy

Rolandic epilepsy-speech dyspraxia syndrome

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Severe neonatal-onset encephalopathy with microcephaly

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Thiamine-responsive encephalopathy

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked lissencephaly with abnormal genitalia

X-linked spasticity-intellectual disability-epilepsy syndrome

List of genes tested (including panels) (140)

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