Details of Disease | DrugMAP

General Information of Disease (ID: DIS0H0JE)

Disease Name	Infantile convulsions and choreoathetosis
Synonyms	infantile convulsions and paroxysmal choreoathetosis, familial; convulsions, familial infantile, with paroxysmal choreoathetosis; paroxysmal kinesigenic dyskinesia with infantile convulsions; Icca syndrome; ICCA; convulsions, infantile, with paroxysmal choreoathetosis, familial; infantile convulsions and choreoathetosis; paroxysmal kinesigenic dyskinesia and infantile convulsions; ICCA syndrome; PKD/IC
Definition	Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.
Disease Hierarchy	DIS0XQ6F: Benign partial infantile seizures DIS6SVEE: Syndromic disease DIS5XVXE: Paroxysmal dyskinesia DIS0H0JE: Infantile convulsions and choreoathetosis
Disease Identifiers	MONDO ID MONDO_0011178 MESH ID C535522 UMLS CUI C1865926 OMIM ID 602066 MedGen ID 356123 Orphanet ID 31709 SNOMED CT ID 715534008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDE2A	TTJGW1Z	Supportive	Autosomal dominant	[1]
SCN8A	TT54ERL	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN8A	DTIMSBJ	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE2A	OTZESF4H	Supportive	Autosomal dominant	[1]
SCN8A	OT0JGIZN	Supportive	Autosomal dominant	[2]
PRRT2	OTCJUBDO	Definitive	Autosomal dominant	[3]
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References

1	Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia. Eur J Hum Genet. 2020 Oct;28(10):1403-1413. doi: 10.1038/s41431-020-0641-9. Epub 2020 May 28.
2	Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.