U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

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:
 
PRRT2 (16p11.2)
 
Monarch Initiative: MONDO:0011178
OMIM®: 602066
Orphanet: ORPHA31709
Authors:

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantile convulsions and choreoathetosis

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
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
Vigevano F
Brain Dev 2005 Apr;27(3):172-7. doi: 10.1016/j.braindev.2003.12.012. PMID: 15737697

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    External link. Please review our privacy policy.