Monogenic epilepsy

Part of

Sub-types of Monogenic epilepsy

• Developmental and epileptic encephalopathy, 2 10 trials
• Mowat-Wilson syndrome 2 trials
  2 sub-types

  • Mowat-Wilson syndrome due to a ZEB2 point mutation 0 trials
  • Mowat-Wilson syndrome due to monosomy 2q22 0 trials
• Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 trial
• X-linked intellectual disability-epilepsy syndrome 0 trials
  4 sub-types

  • X-linked dominant intellectual disability-epilepsy syndrome 0 trials
  • Developmental and epileptic encephalopathy, 8 0 trials
  • Developmental and epileptic encephalopathy, 9 0 trials
  • Syndromic X-linked intellectual disability Hedera type 0 trials
• Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 0 trials
  3 sub-types

  • Autosomal recessive spinocerebellar ataxia 12 0 trials
  • Autosomal recessive spinocerebellar ataxia 15 0 trials
  • Spinocerebellar ataxia, autosomal recessive 23 0 trials
• Developmental and epileptic encephalopathy, 23 0 trials
• Developmental and epileptic encephalopathy, 73 0 trials
• Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features 0 trials
  2 sub-types

  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 trials
  • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features 0 trials
• Familial infantile myoclonic epilepsy 0 trials
• Focal epilepsy-intellectual disability-cerebro-cerebellar malformation 0 trials
• Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 0 trials
• Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 trials
• Neonatal-onset encephalopathy with rigidity and seizures 0 trials
• Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 trials
• Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 0 trials
• Polyhydramnios, megalencephaly, and symptomatic epilepsy 0 trials
• Severe neonatal-onset encephalopathy with microcephaly 0 trials
• Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials