Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome

Jacques Rochette, Patrice Roll, Ying Hui Fu, Anne Gaëlle Lemoing, Barbara Royer, Agathe Roubertie, Patrick Berquin, Jacques Motte, Sau Wei Wong, Alasdair Hunter, Andrée Robaglia-Schlupp, Louis J. Ptacek, Pierre Szepetowski

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Epilepsy and paroxysmal dyskinesia are two episodic cerebral disorders that can share a common genetic basis. Rare families with infantile seizures and paroxysmal dyskinesia [predominantly paroxysmal kinesigenic dyskinesia (PKD)], co-inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome) and a disease gene has been mapped at chromosome 16p12-q12 (ICCA region). We report the clinical picture of seven previously unreported families with ICCA syndrome. The identification of novel ICCA families should contribute to better knowledge regarding the clinical manifestations of ICCA syndrome as well as the search for the underlying genetic defect(s).

Original languageEnglish
Pages (from-to)199-204
Number of pages6
JournalEpileptic Disorders
Volume12
Issue number3
DOIs
Publication statusPublished - Sep 2010

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Chorea
Seizures
Epilepsy
Chromosomes
Genes
Wells syndrome
Familial paroxysmal dystonia

Keywords

  • epilepsy
  • ICCA syndrome
  • infantile seizures
  • paroxysmal dyskinesia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Rochette, J., Roll, P., Fu, Y. H., Lemoing, A. G., Royer, B., Roubertie, A., ... Szepetowski, P. (2010). Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. Epileptic Disorders, 12(3), 199-204. https://doi.org/10.1684/epd.2010.0328

Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. / Rochette, Jacques; Roll, Patrice; Fu, Ying Hui; Lemoing, Anne Gaëlle; Royer, Barbara; Roubertie, Agathe; Berquin, Patrick; Motte, Jacques; Wong, Sau Wei; Hunter, Alasdair; Robaglia-Schlupp, Andrée; Ptacek, Louis J.; Szepetowski, Pierre.

In: Epileptic Disorders, Vol. 12, No. 3, 09.2010, p. 199-204.

Research output: Contribution to journalArticle

Rochette, J, Roll, P, Fu, YH, Lemoing, AG, Royer, B, Roubertie, A, Berquin, P, Motte, J, Wong, SW, Hunter, A, Robaglia-Schlupp, A, Ptacek, LJ & Szepetowski, P 2010, 'Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome', Epileptic Disorders, vol. 12, no. 3, pp. 199-204. https://doi.org/10.1684/epd.2010.0328
Rochette, Jacques ; Roll, Patrice ; Fu, Ying Hui ; Lemoing, Anne Gaëlle ; Royer, Barbara ; Roubertie, Agathe ; Berquin, Patrick ; Motte, Jacques ; Wong, Sau Wei ; Hunter, Alasdair ; Robaglia-Schlupp, Andrée ; Ptacek, Louis J. ; Szepetowski, Pierre. / Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. In: Epileptic Disorders. 2010 ; Vol. 12, No. 3. pp. 199-204.
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