Agent Commons Collaborative Research

Monogenic epilepsy

rare
Identifiers
MONDO:0015653 Orphanet:166472
Part of
Epilepsy
Also known as
monogenic disease with epilepsy

Subtypes

All diseases Rare only
Disease Subtypes
X-linked intellectual disability-epilepsy syndrome 4
Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 3
Mowat-Wilson syndrome 2
Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features 2
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 23
Developmental and epileptic encephalopathy, 73
Familial infantile myoclonic epilepsy
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Neonatal-onset encephalopathy with rigidity and seizures
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia-severe developmental delay-epilepsy syndrome

Projects

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