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Infantile convulsions and choreoathetosis(ICCA)

MedGen UID:
356123
Concept ID:
C1865926
Disease or Syndrome
Synonyms: Convulsions, infantile, with paroxysmal choreoathetosis, familial; ICCA; Infantile convulsions and paroxysmal choreoathetosis, familial; PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
SNOMED CT: Infantile convulsion and choreoathetosis syndrome (715534008); ICCA syndrome (715534008); Paroxysmal kinesigenic dyskinesia and infantile convulsion (715534008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PRRT2 (16p11.2)
 
Monarch Initiative: MONDO:0011178
OMIM®: 602066
Orphanet: ORPHA31709

Disease characteristics

Excerpted from the GeneReview: PRRT2-Related Disorder
PRRT2-related disorder, caused by heterozygous pathogenic variants in the gene PRRT2 (associated with aberrant synaptic transmission), is characterized by three core episodic neurologic phenotypes: epilepsy, movement disorder, and migraine. Age at onset and phenotypes range from neonatal/infantile (self-limited [familial] infantile epilepsy), to childhood (childhood absence epilepsy), to adolescence to adulthood (paroxysmal kinesigenic dyskinesia [PKD] or migraine). As individuals with PRRT2-related disorder age, they may exhibit one of more of these core phenotypes in various combinations, either concurrently or sequentially. Additionally, family members with the same pathogenic PRRT2 variant may display different core phenotypes. [from GeneReviews]
Authors:
Kathryn Yang  |  Vincente Quiroz  |  Darius Ebrahimi-Fakhari   view full author information

Additional description

From OMIM
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.  http://www.omim.org/entry/602066

Clinical features

From HPO
Generalized-onset seizure
MedGen UID:
115963
Concept ID:
C0234533
Disease or Syndrome
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.
Paroxysmal dystonia
MedGen UID:
97951
Concept ID:
C0393588
Sign or Symptom
A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
Partial sensory epilepsy
MedGen UID:
107460
Concept ID:
C0544645
Disease or Syndrome
A focal sensory seizure is a type seizure beginning with a subjective sensation.
Focal-onset seizure
MedGen UID:
199670
Concept ID:
C0751495
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Normal interictal EEG
MedGen UID:
335892
Concept ID:
C1843146
Finding
Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.
Paroxysmal choreoathetosis
MedGen UID:
343687
Concept ID:
C1851936
Disease or Syndrome
Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
Infantile spasms
MedGen UID:
854616
Concept ID:
C3887898
Disease or Syndrome
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Neurodevelopmental abnormality
MedGen UID:
868343
Concept ID:
C4022737
Pathologic Function
A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantile convulsions and choreoathetosis
Follow this link to review classifications for Infantile convulsions and choreoathetosis in Orphanet.

Professional guidelines

PubMed

Zhao G, Liu X, Zhang Q, Wang K
Int J Neurosci 2018 Aug;128(8):751-760. Epub 2018 Jan 7 doi: 10.1080/00207454.2017.1418345. PMID: 29285950

Recent clinical studies

Etiology

Zhao G, Liu X, Zhang Q, Wang K
Int J Neurosci 2018 Aug;128(8):751-760. Epub 2018 Jan 7 doi: 10.1080/00207454.2017.1418345. PMID: 29285950
Sangu N, Shimojima K, Akihisa O, Ando T, Yamamoto T
Epilepsy Res 2015 Dec;118:10-3. Epub 2015 Sep 21 doi: 10.1016/j.eplepsyres.2015.09.010. PMID: 26561923
Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292
Wang K, Zhao X, Du Y, He F, Peng G, Luo B
Brain Dev 2013 Aug;35(7):664-6. Epub 2012 Aug 16 doi: 10.1016/j.braindev.2012.07.018. PMID: 22902309

Diagnosis

Shimomura R, Ito S, Kurotaki N, Saito K, Nagata S
Pediatr Int 2022 Jan;64(1):e14681. Epub 2021 Sep 7 doi: 10.1111/ped.14681. PMID: 34490964
Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C
Brain 2015 Dec;138(Pt 12):3476-95. Epub 2015 Nov 23 doi: 10.1093/brain/awv317. PMID: 26598493
Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292
Vigevano F
Brain Dev 2005 Apr;27(3):172-7. doi: 10.1016/j.braindev.2003.12.012. PMID: 15737697
Hattori H, Yorifuji T
Brain Dev 2000 Oct;22(7):449-50. doi: 10.1016/s0387-7604(00)00180-7. PMID: 11102731

Prognosis

Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P
Gene 2002 Feb 20;285(1-2):141-8. doi: 10.1016/s0378-1119(02)00416-x. PMID: 12039040

Clinical prediction guides

Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T
Seizure 2019 Oct;71:1-5. Epub 2019 May 20 doi: 10.1016/j.seizure.2019.05.017. PMID: 31154286
Wang K, Zhao X, Du Y, He F, Peng G, Luo B
Brain Dev 2013 Aug;35(7):664-6. Epub 2012 Aug 16 doi: 10.1016/j.braindev.2012.07.018. PMID: 22902309
Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM
Neurology 2012 Nov 20;79(21):2104-8. Epub 2012 Oct 17 doi: 10.1212/WNL.0b013e3182752c6c. PMID: 23077018Free PMC Article
Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P
Gene 2002 Feb 20;285(1-2):141-8. doi: 10.1016/s0378-1119(02)00416-x. PMID: 12039040
Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersósimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P
Am J Hum Genet 2001 Mar;68(3):788-94. Epub 2001 Feb 13 doi: 10.1086/318805. PMID: 11179027Free PMC Article

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