ICCA
MCID: CNV018
MIFTS: 35

Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis (ICCA)

Categories: Genetic diseases, Neuronal diseases, Rare 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 58 76 13 41
Infantile Convulsions and Paroxysmal Choreoathetosis, Familial 58 54 30 6 74
Icca Syndrome 58 54 60
Icca 58 54 76
Pkd/ic 58 76
Icca Syndrome Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions 76
Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions; Pkd/ic 58
Convulsions, Infantile, with Paroxysmal Choreoathetosis, Familial 54
Familial Infantile Convulsions and Paroxysmal Choreoathetosis 76
Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions 58
Paroxysmal Kinesigenic Dyskinesia and Infantile Convulsions 60
Infantile Convulsions and Choreoathetosis 60
Dyskinetic Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
infantile convulsions and choreoathetosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
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:

33
convulsions, familial infantile, with paroxysmal choreoathetosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 602066
ICD10 via Orphanet 35 G40.4
UMLS via Orphanet 75 C1865926
Orphanet 60 ORPHA31709
MedGen 43 C1865926

Summaries for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

NIH Rare Diseases : 54 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.

MalaCards based summary : Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis, also known as infantile convulsions and paroxysmal choreoathetosis, familial, is related to episodic kinesigenic dyskinesia 1 and seizures, benign familial infantile, 1, and has symptoms including seizures, ataxia and tremor. An important gene associated with Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis is PRRT2 (Proline Rich Transmembrane Protein 2). Affiliated tissues include testes and eye, and related phenotypes are focal-onset seizure and normal interictal eeg

OMIM : 58 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 : 76 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.

Wikipedia : 77 Infantile convulsions and choreoathetosis (ICCA) syndrome is a neurological genetic disorder with an... more...

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:

# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 1 11.1
2 seizures, benign familial infantile, 1 11.1
3 seizures, benign familial infantile, 2 11.1
4 paroxysmal exertion-induced dyskinesia 11.1
5 cholangiocarcinoma 10.1
6 intrahepatic cholangiocarcinoma 10.1
7 paroxysmal choreoathetosis 10.1
8 benign familial infantile epilepsy 9.6 PRRT2 SCN8A
9 epilepsy 9.5 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

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

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 focal-onset seizure 60 33 hallmark (90%) Very frequent (99-80%) HP:0007359
2 normal interictal eeg 60 33 hallmark (90%) Very frequent (99-80%) HP:0002372
3 paroxysmal choreoathetosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007098
4 paroxysmal dyskinesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007166
5 generalized-onset seizure 33 hallmark (90%) HP:0002197
6 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
7 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
8 stereotypy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000733
9 anxiety 33 HP:0000739
10 generalized seizures 60 Very frequent (99-80%)
11 paroxysmal dystonia 33 HP:0002268
12 focal seizures, afebril 33 HP:0040168

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
normal interictal eeg
dystonia, paroxysmal
normal psychomotor development
seizures, partial, afebrile
seizures, generalized, afebrile
more

Clinical features from OMIM:

602066

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


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

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 74 / NDF-RT 52 :


Genetic Tests for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

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

# Genetic test Affiliating Genes
1 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial 30 PRRT2

Anatomical Context for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

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

42
Testes, Eye

Publications for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Articles related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

# Title Authors Year
1
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. ( 22243967 )
2012
2
PRRT2 mutations are the major cause of benign familial infantile seizures. ( 22623405 )
2012
3
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. ( 22744660 )
2012
4
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. ( 22832103 )
2012
5
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. ( 22399141 )
2012
6
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. ( 22101681 )
2011
7
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. ( 22120146 )
2011
8
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. ( 21060786 )
2010
9
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. ( 9860304 )
1998

Variations for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

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

76
# 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 (show all 26)
# 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.629dupC (p.Ala211Serfs) duplication Pathogenic rs730882067 GRCh37 Chromosome 16, 29825004: 29825004
4 PRRT2 NM_145239.2(PRRT2): c.950G> A (p.Ser317Asn) single nucleotide variant Pathogenic rs387907125 GRCh37 Chromosome 16, 29825724: 29825724
5 PRRT2 NM_145239.2(PRRT2): c.950G> A (p.Ser317Asn) single nucleotide variant Pathogenic rs387907125 GRCh38 Chromosome 16, 29814403: 29814403
6 PRRT2 NM_145239.2(PRRT2): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs387907126 GRCh37 Chromosome 16, 29825093: 29825093
7 PRRT2 NM_145239.2(PRRT2): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs387907126 GRCh38 Chromosome 16, 29813772: 29813772
8 PRRT2 NM_145239.2(PRRT2): c.516dupT (p.Glu173Terfs) duplication Pathogenic rs730882068 GRCh38 Chromosome 16, 29813570: 29813570
9 PRRT2 NM_145239.2(PRRT2): c.516dupT (p.Glu173Terfs) duplication Pathogenic rs730882068 GRCh37 Chromosome 16, 29824891: 29824891
10 PRRT2 NM_145239.2(PRRT2): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs387907127 GRCh37 Chromosome 16, 29824862: 29824862
11 PRRT2 NM_145239.2(PRRT2): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs387907127 GRCh38 Chromosome 16, 29813541: 29813541
12 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
13 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs587778771 GRCh38 Chromosome 16, 29813703: 29813703
14 PRRT2 NM_145239.2(PRRT2): c.562C> T (p.Gln188Ter) single nucleotide variant Pathogenic rs397514578 GRCh37 Chromosome 16, 29824937: 29824937
15 PRRT2 NM_145239.2(PRRT2): c.562C> T (p.Gln188Ter) single nucleotide variant Pathogenic rs397514578 GRCh38 Chromosome 16, 29813616: 29813616
16 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
17 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh38 Chromosome 16, 29813703: 29813703
18 PRRT2 NM_145239.2(PRRT2): c.635A> G (p.Asn212Ser) single nucleotide variant Uncertain significance rs779020826 GRCh37 Chromosome 16, 29825010: 29825010
19 PRRT2 NM_145239.2(PRRT2): c.635A> G (p.Asn212Ser) single nucleotide variant Uncertain significance rs779020826 GRCh38 Chromosome 16, 29813689: 29813689
20 PRRT2 NC_000016.10: g.(?_29824300)_(29826034_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 29824300: 29826034
21 PRRT2 NM_145239.2(PRRT2): c.434G> A (p.Arg145Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 29824809: 29824809
22 PRRT2 NM_145239.2(PRRT2): c.434G> A (p.Arg145Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 29813488: 29813488
23 PRRT2 NM_145239.2: c.799del deletion Pathogenic GRCh38 Chromosome 16, 29813853: 29813853
24 PRRT2 NM_145239.2: c.799del deletion Pathogenic GRCh37 Chromosome 16, 29825174: 29825174
25 PRRT2 NC_000016.10: g.29813358delG deletion Likely pathogenic GRCh37 Chromosome 16, 29824679: 29824679
26 PRRT2 NC_000016.10: g.29813358delG deletion Likely pathogenic GRCh38 Chromosome 16, 29813358: 29813358

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

Cellular components related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.96 PRRT2 SCN8A
2 axon GO:0030424 8.62 PRRT2 SCN8A

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