Details of Disease

General Information of Disease (ID: DISO0BHK)

• Disease Name: Developmental and epileptic encephalopathy, 42
• Synonyms: developmental and epileptic encephalopathy 42; DEE42; epileptic encephalopathy, early infantile, 42; EIEE42; early infantile epileptic encephalopathy caused by mutation in CACNA1A; epileptic encephalopathy, early infantile, type 42; EIEE42; CACNA1A early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, 42
• Definition: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.
• Disease Hierarchy:
  DISQNP59: CACNA1A-related complex neurodevelopmental disorder
  DISISEI2: Undetermined early-onset epileptic encephalopathy
  DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
  DISZOCA3: Epileptic encephalopathy
  DISO0BHK: Developmental and epileptic encephalopathy, 42
• Disease Identifiers:
  MONDO ID: MONDO_0014917
  UMLS CUI: C4310716
  OMIM ID: 617106
  MedGen ID: 934683

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	TTX4QDJ	moderate	CausalMutation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	DTYKGPB	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	OTY08SIX	Strong	Autosomal dominant	[2]

References

• [1] Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.Neurol Neurochir Pol. 2017 Mar-Apr;51(2):184-189. doi: 10.1016/j.pjnns.2017.01.005. Epub 2017 Jan 21.
• [2] Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. J Physiol. 2010 Jun 1;588(Pt 11):1905-13. doi: 10.1113/jphysiol.2009.186437. Epub 2010 Feb 15.