Orphanet: Diagnostic de l_ï¿½ï¿½ï¿½pilepsie Panel

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Diagnosis of epilepsy (Panel)

Service de Génétique Moléculaire
Hôpital Necker-Enfants Malades
149 rue de Sèvres
75743 PARIS
FRANCE
Director of laboratory : Pr Julie STEFFANN
More information

Phone : 33 (0)1 44 49 51 64
Additional Phone : 33 (0)1 44 38 15 07
Fax : 33 (0)1 71 19 64 20
Website

Last update: May 2022

Responsible of diagnostic test

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 (93)

2q37 microdeletion syndrome

5q14.3 microdeletion syndrome

Action myoclonus-renal failure 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

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autosomal dominant epilepsy with auditory features

Autosomal dominant non-syndromic intellectual disability

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

Autosomal recessive cutis laxa type 2, classic type

Benign familial infantile epilepsy

Benign familial neonatal epilepsy

Benign familial neonatal-infantile seizures

CNTNAP2-related developmental and epileptic encephalopathy

Cardiofaciocutaneous syndrome

Childhood absence epilepsy

Christianson syndrome

Congenital sialidosis type 2

Cornelia de Lange syndrome

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 epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Familial focal epilepsy with variable foci

Familial infantile myoclonic epilepsy

Fatty acyl-CoA reductase 1 deficiency

Female restricted epilepsy with intellectual disability

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Generalized epilepsy with febrile seizures-plus

Hereditary cryohydrocytosis with reduced stomatin

Hyperekplexia-epilepsy syndrome

Hyperphosphatasia-intellectual disability syndrome

Infantile convulsions and choreoathetosis

Infantile epileptic-dyskinetic encephalopathy

Infantile spasms syndrome

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Juvenile absence epilepsy

Juvenile sialidosis type 2

KCNQ2-related epileptic encephalopathy

Kabuki syndrome

Lennox-Gastaut syndrome

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Malignant migrating focal seizures of infancy

Microduplication Xp11.22p11.23 syndrome

Myoclonic-astatic epilepsy

Neurodegenerative syndrome due to cerebral folate transport deficiency

Non-specific early-onset epileptic encephalopathy

Partington syndrome

Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive myoclonic epilepsy type 1

Progressive myoclonic epilepsy type 3

Progressive myoclonic epilepsy type 5

Progressive myoclonic epilepsy type 7

Progressive myoclonic epilepsy with dystonia

Proximal Xq28 duplication syndrome

Pyridoxal phosphate-responsive seizures

Pyridoxine-dependent epilepsy

Rolandic epilepsy

Rolandic epilepsy-speech dyspraxia syndrome

Schinzel-Giedion syndrome

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

Severe neonatal-onset encephalopathy with microcephaly

Smith-Magenis syndrome

Temple-Baraitser syndrome

Wrinkly skin syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

X-linked lissencephaly with abnormal genitalia

X-linked spasticity-intellectual disability-epilepsy syndrome

Zimmermann-Laband syndrome

List of genes tested (including panels) (152)

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.