MCID: CNV018
MIFTS: 34

Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

MalaCards integrated aliases for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

Name: Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 54 71 13
Infantile Convulsions and Paroxysmal Choreoathetosis, Familial 50 29 69
Icca 50 24 71
Icca Syndrome 50 56
Pkd/ic 24 71
Icca Syndrome Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions 71
Convulsions, Infantile, with Paroxysmal Choreoathetosis, Familial 50
Familial Infantile Convulsions with Paroxysmal Choreoathetosis 24
Familial Infantile Convulsions and Paroxysmal Choreoathetosis 71
Paroxysmal Kinesigenic Dyskinesia and Infantile Convulsions 56
Infantile Convulsions and Choreoathetosis 56
Dyskinetic Syndrome 69
Dyskinesias 42

Characteristics:

Orphanet epidemiological data:

56
infantile convulsions and choreoathetosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
seizures easily controlled by medications
average onset of seizures 6 months (range 3-12)
spontaneous resolution of seizures by 12 months of age
onset of choreoathetosis in childhood or young adult (6-23 years)


HPO:

32
convulsions, familial infantile, with paroxysmal choreoathetosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 602066
Orphanet 56 ORPHA31709
UMLS via Orphanet 70 C1865926
ICD10 via Orphanet 34 G40.4
MedGen 40 C1865926

Summaries for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 31709disease definitioninfantile 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 ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.epidemiologythis disorder is rare but the exact prevalence is unknown.clinical descriptionbenign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. seizures are afebrile, partial or sometimes generalized, and normally disappear after the first year of life. during childhood or adolescence, affected individuals present with paroxysmal kinesigenic dyskinesia with frequent and recurrent episodic choreathetotic or dystonic movements that last less than 1 minute. the attacks are triggered by the initiation of voluntary movements or startle. the association with other paroxysmal disorders such as migraine, with or without aura, hemiplegic migraine, episodic ataxia and tics has also been described. psychomotor development is normal.etiologythe genetic loci of icca syndrome have been described on chromosomes 16p11.2-q12.1, 16q13-q22.1 and 3q29-29. mutations in the proline-rich transmembrane protein 2 (prrt2) gene, located on 16p11.2, have recently been found in families affected by icca syndrome. this gene encodes a membrane protein that interacts with the presynaptic protein snap-25 but the mechanism leading to the disease remains unknown.diagnostic methodsthe diagnosis is mainly clinical, based on the appearance of infantile convulsions with benign evolution followed by kinesigenic dyskinesia attacks later on. genetic testing confirms the diagnosis.differential diagnosisdifferential diagnosis includes other paroxysmal dystonias such as paroxysmal exertion-induced dyskinesia and paroxysmal non-kinesigenic dyskinesia (see these terms) triggered by drugs or food intake (such as caffeine and alcohol).genetic counselingicca syndrome can present as sporadic or familial; in the latter case, it is transmitted as an autosomal dominanttrait that can be variably expressed within the same family.management and treatmentantiepileptic drugs, mainly phenytoin or carbamazepine, are effective in controlling seizures and dyskinesia during the active phase of the disorder.prognosisicca has a good outcome. without treatment, dyskinetic attacks tend to disappear during adulthood.visit the orphanet disease page for more resources. last updated: 7/1/2013

MalaCards based summary : Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis, also known as infantile convulsions and paroxysmal choreoathetosis, familial, is related to primary ciliary dyskinesia and tardive dyskinesia, and has symptoms including ataxia, migraine and focal seizures. An important gene associated with Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis is PRRT2 (Proline Rich Transmembrane Protein 2). Affiliated tissues include testes and eye.

OMIM : 54
Benign familial infantile convulsions (BFIC; see 601764) is an autosomal dominant disorder characterized by afebrile seizures occurring between 3 and 12 months of age. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. The ICCA syndrome shares overlapping clinical features with benign familial infantile seizures-2 (BFIS2; 605751) and episodic kinesigenic dyskinesia-1 (EKD1; 128200), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to 16p. (602066)

UniProtKB/Swiss-Prot : 71 Convulsions, familial infantile, with paroxysmal choreoathetosis: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.

Related Diseases for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Diseases related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
id Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 12.2
2 tardive dyskinesia 12.2
3 adcy5-related dyskinesia 12.1
4 familial paroxysmal kinesigenic dyskinesia 12.1
5 familial paroxysmal nonkinesigenic dyskinesia 12.1
6 biliary dyskinesia 12.1
7 drug induced dyskinesia 12.1
8 ciliary dyskinesia, primary, 1, with or without situs inversus 12.0
9 ciliary dyskinesia, primary, 3, with or without situs inversus 12.0
10 ciliary dyskinesia, primary, 9, with or without situs inversus 12.0
11 ciliary dyskinesia, primary, 7, with or without situs inversus 12.0
12 ciliary dyskinesia, primary, 35 12.0
13 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.0
14 ciliary dyskinesia, primary, 5 12.0
15 ciliary dyskinesia, primary, 17 12.0
16 ciliary dyskinesia, primary, 15 12.0
17 ciliary dyskinesia, primary, 14 12.0
18 ciliary dyskinesia, primary, 20 12.0
19 ciliary dyskinesia, primary, 19 12.0
20 ciliary dyskinesia, primary, 16 12.0
21 ciliary dyskinesia, primary, 33 12.0
22 ciliary dyskinesia, primary, 21 12.0
23 ciliary dyskinesia, primary, 28 12.0
24 ciliary dyskinesia, primary, 26 12.0
25 ciliary dyskinesia, primary, 23 12.0
26 ciliary dyskinesia, primary, 27 12.0
27 ciliary dyskinesia, primary, 25 12.0
28 cholangiocarcinoma, susceptibility to 10.8
29 seizures, benign familial infantile, 2 10.8
30 paroxysmal exertion-induced dyskinesia 10.8
31 seizures, benign familial infantile, 1 10.8
32 episodic kinesigenic dyskinesia 1 10.8
33 paroxysmal choreoathetosis 9.9
34 nevus cavernosus 9.5 PRRT2 SCN8A
35 floating-harbor syndrome 9.4 PRRT2 SCN8A
36 juvenile absence epilepsy 9.2 PRRT2 SCN8A

Graphical network of the top 20 diseases related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:



Diseases related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Symptoms & Phenotypes for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dystonia, paroxysmal
seizures, partial, afebrile
normal psychomotor development
normal interictal eeg
seizures occur in clusters
more

Clinical features from OMIM:

602066

Human phenotypes related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
2 migraine 56 32 frequent (33%) Frequent (79-30%) HP:0002076
3 focal seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0007359
4 generalized seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002197
5 normal interictal eeg 56 32 hallmark (90%) Very frequent (99-80%) HP:0002372
6 stereotypy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000733
7 paroxysmal choreoathetosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0007098
8 paroxysmal dyskinesia 56 32 hallmark (90%) Very frequent (99-80%) HP:0007166
9 anxiety 32 HP:0000739
10 paroxysmal dystonia 32 HP:0002268
11 focal seizures, afebril 32 HP:0040168

UMLS symptoms related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:


ataxia, athetosis, dystonia, meningism, myoclonus, pain, paresis, reflex, abnormal, seizures, tremor, vertigo, muscle fibrillation, asterixis, bradykinesia, asynergia, synkinesis, dyskinesia neonatal, involuntary movements, abnormal head movements, abnormal coordination, neurobehavioral manifestations, myokymia, staggering gait, neuromuscular manifestations, symptoms, dystonia, paroxysmal, seizures, focal

Drugs & Therapeutics for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Search Clinical Trials , NIH Clinical Center for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: dyskinesias

Genetic Tests for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Genetic tests related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

id Genetic test Affiliating Genes
1 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial 29
2 Familial Infantile Convulsions with Paroxysmal Choreoathetosis 24 PRRT2

Anatomical Context for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

MalaCards organs/tissues related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

39
Testes, Eye

Publications for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Variations for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

UniProtKB/Swiss-Prot genetic disease variations for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

71
id Symbol AA change Variation ID SNP ID
1 PRRT2 p.Ser317Asn VAR_067327 rs387907125

ClinVar genetic disease variations for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRRT2 PRRT2, 1-BP DUP, 649C duplication Pathogenic
2 PRRT2 NM_145239.2(PRRT2): c.629dupC (p.Ala211Serfs) duplication Pathogenic rs730882067 GRCh38 Chromosome 16, 29813683: 29813683
3 PRRT2 NM_145239.2(PRRT2): c.950G> A (p.Ser317Asn) single nucleotide variant Pathogenic rs387907125 GRCh37 Chromosome 16, 29825724: 29825724
4 PRRT2 NM_145239.2(PRRT2): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs387907126 GRCh37 Chromosome 16, 29825093: 29825093
5 PRRT2 NM_145239.2(PRRT2): c.516dupT (p.Glu173Terfs) duplication Pathogenic rs730882068 GRCh38 Chromosome 16, 29813570: 29813570
6 PRRT2 NM_145239.2(PRRT2): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs387907127 GRCh37 Chromosome 16, 29824862: 29824862
7 PRRT2 NM_145239.2(PRRT2): c.562C> T (p.Gln188Ter) single nucleotide variant Pathogenic rs397514578 GRCh37 Chromosome 16, 29824937: 29824937
8 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024

Expression for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Search GEO for disease gene expression data for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis.

Pathways for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

GO Terms for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Sources for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

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70 UMLS via Orphanet
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