Details of Disease

General Information of Disease (ID: DISR0ACD)

• Disease Name: Developmental and epileptic encephalopathy, 9
• Synonyms: PCDH19-related infantile epileptic encephalopathy; epilepsy and mental retardation limited to females; epilepsy, female restricted, with mental retardation; epilepsy, female restricted, with intellectual disability; female restricted epilepsy with intellectual deficit; epilepsy, female-restricted, with mental retardation; epilepsy and intellectual disability limited to females; PCDH19-related female-limited epilepsy; PCDH19-related FLE; epilepsy, female-restricted, with intellectual disability; early infantile epileptic encephalopathy 9; EIEE9; developmental and epileptic encephalopathy 9; familial epilepsy and mental retardation limited to females; epileptic encephalopathy, early infantile, type 9; Juberg Hellman syndrome; early infantile epileptic encephalopathy caused by mutation in PCDH19; Juberg-Hellman syndrome; PCDH19 early infantile epileptic encephalopathy; familial epilepsy and intellectual disability limited to females; EFMR; female restricted epilepsy with mental retardation; female restricted epilepsy with intellectual disability; early infantile female-limited epilecptic encephalopathy; DEE9; epileptic encephalopathy, early infantile, 9; developmental and epileptic encephalopathy, 9; early infantile epileptic encephalopathy type 9
• Definition: Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
• Disease Hierarchy:
  DISI3QE9: X-linked complex neurodevelopmental disorder
  DISIM2J4: X-linked intellectual disability-epilepsy syndrome
  DISZOCA3: Epileptic encephalopathy
  DISR0ACD: Developmental and epileptic encephalopathy, 9
• Disease Identifiers:
  MONDO ID: MONDO_0010246
  MESH ID: C564715
  UMLS CUI: C1848137
  OMIM ID: 300088
  MedGen ID: 338393
  Orphanet ID: 101039

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCDH19	OTSOW3MV	Definitive	X-linked	[1]
TSPAN6	OT8X0NWN	Definitive	Genetic Variation	[2]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] Tetraspanin 6: A novel regulator of hippocampal synaptic transmission and long term plasticity.PLoS One. 2017 Feb 16;12(2):e0171968. doi: 10.1371/journal.pone.0171968. eCollection 2017.