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Diagnosis of epileptic syndromes (Panel)

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Last update: June 2022

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes (Panel description)

List of diseases tested (225)
15q11q13 microduplication syndrome
17q11 microdeletion syndrome
17q21.31 microdeletion syndrome
1p36 deletion syndrome
1q44 microdeletion syndrome
3-methylglutaconic aciduria type 1
5q14.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
AICA-ribosiduria
ANK3-related intellectual disability-sleep disturbance syndrome
Acquired schizencephaly
Action myoclonus-renal failure syndrome
Adenylosuccinate lyase deficiency
Aicardi-Goutières syndrome
Alexander disease type I
Alobar holoprosencephaly
Alpha-thalassemia-X-linked intellectual disability syndrome
Amelocerebrohypohidrotic 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
Aspartylglucosaminuria
Atypical Gaucher disease due to saposin C deficiency
Atypical Rett syndrome
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Autosomal dominant epilepsy with auditory features
Autosomal dominant hypocalcemia
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
Autosomal recessive primary microcephaly
Benign adult familial myoclonic epilepsy
Benign familial infantile epilepsy
Benign familial mesial temporal lobe epilepsy
Benign familial neonatal epilepsy
Benign familial neonatal-infantile seizures
Bilateral frontoparietal polymicrogyria
Bilateral generalized polymicrogyria
Bilateral perisylvian polymicrogyria
Biotinidase deficiency
Borjeson-Forssman-Lehmann syndrome
CDKL5-deficiency disorder
CNTNAP2-related developmental and epileptic encephalopathy
Cardiofaciocutaneous syndrome
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Childhood absence epilepsy
Choreoacanthocytosis
Christianson syndrome
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy, Fukuyama type
Constitutional megaloblastic anemia with severe neurologic disease
Continuous spikes and waves during sleep
Corpus callosum agenesis-abnormal genitalia syndrome
Costello syndrome
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
DEND syndrome
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Dihydropteridine reductase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dravet syndrome
EAST 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
Encephalocraniocutaneous lipomatosis
Epilepsy with myoclonic absences
Epileptic encephalopathy with global cerebral demyelination
FOXG1 syndrome due to 14q12 microdeletion
Familial focal epilepsy with variable foci
Familial infantile myoclonic epilepsy
Familial mesial temporal lobe epilepsy with febrile seizures
Familial porencephaly
Familial schizencephaly
Female restricted epilepsy with intellectual disability
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Fucosidosis
Fumaric aciduria
GM3 synthase deficiency
GNAO1-related developmental delay-seizures-movement disorder spectrum
Gamma-aminobutyric acid transaminase deficiency
Generalized epilepsy with febrile seizures-plus
Generalized epilepsy-paroxysmal dyskinesia syndrome
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Guanidinoacetate methyltransferase deficiency
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Hemimegalencephaly
Hereditary folate malabsorption
Hereditary hyperekplexia
Hereditary leiomyomatosis and renal cell cancer
Hyperekplexia-epilepsy syndrome
Hyperinsulinism-hyperammonemia syndrome
Hypochondroplasia
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
Infantile convulsions and choreoathetosis
Infantile epileptic-dyskinetic encephalopathy
Infantile glycine encephalopathy
Infantile neuroaxonal dystrophy
Infantile spasms syndrome
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Infantile-onset spinocerebellar ataxia
Intellectual disability syndrome due to a DYRK1A point mutation
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intermediate DEND syndrome
Isolated focal cortical dysplasia type IIa
Isolated focal cortical dysplasia type IIb
Isolated focal cortical dysplasia type Ia
Isolated sulfite oxidase deficiency
Joubert syndrome
Juvenile absence epilepsy
Juvenile myoclonic epilepsy
KCNQ2-related epileptic encephalopathy
KDM5C-related syndromic X-linked intellectual disability
Kabuki syndrome
Knobloch syndrome
Koolen-De Vries syndrome due to a point mutation
L-2-hydroxyglutaric aciduria
Lafora disease
Laminin subunit alpha 2-related congenital muscular dystrophy
Landau-Kleffner syndrome
Leigh syndrome
Lennox-Gastaut syndrome
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Linear nevus sebaceus syndrome
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly syndrome, Norman-Roberts type
Lissencephaly type 1 due to doublecortin gene mutation
Lobar holoprosencephaly
Malignant migrating focal seizures of infancy
Metachromatic leukodystrophy, juvenile form
Micro syndrome
Midline interhemispheric variant of holoprosencephaly
Miller-Dieker syndrome
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Mowat-Wilson syndrome due to a ZEB2 point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Muscle-eye-brain disease
Myoclonic-astatic epilepsy
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
Neonatal glycine encephalopathy
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Neuronal ceroid lipofuscinosis
Nicolaides-Baraitser syndrome
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form
Non-specific early-onset epileptic encephalopathy
Non-syndromic bicoronal craniosynostosis
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Pallister-Hall syndrome
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Partington syndrome
Periventricular nodular heterotopia
Pitt-Hopkins syndrome
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 6
Primary erythromelalgia
Progressive dementia with neuroserpin inclusion bodies
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 6
Progressive myoclonic epilepsy type 7
Progressive myoclonic epilepsy with dystonia
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Rett syndrome
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 5
Rolandic epilepsy
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rolandic epilepsy-speech dyspraxia syndrome
Romano-Ward syndrome
STXBP1-related encephalopathy
SYNGAP1-related developmental and epileptic encephalopathy
Saethre-Chotzen syndrome
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Sanfilippo syndrome type C
Sanfilippo syndrome type D
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Severe Canavan disease
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Severe neonatal-onset encephalopathy with microcephaly
Sialidosis type 1
Sialuria
Sotos syndrome
Spastic paraplegia type 2
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Subcortical band heterotopia
Succinic semialdehyde dehydrogenase deficiency
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
Systemic lupus erythematosus
Tay-Sachs disease
Temtamy syndrome
Thiamine-responsive encephalopathy
Tuberous sclerosis complex
Tubulinopathy-associated dysgyria
Walker-Warburg syndrome
X-linked creatine transporter deficiency
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked intellectual disability due to GRIA3 mutations
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Hedera type
X-linked intellectual disability, Nascimento type
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked lissencephaly with abnormal genitalia
X-linked non-syndromic intellectual disability
X-linked spasticity-intellectual disability-epilepsy syndrome
Zellweger syndrome
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