familial Infantile convulsions and paroxysmal choreoathetosis

A hereditary 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. Mutations in the PRRT2 gene have been identified. OMIM: 602066

Also Known As:

Infantile convulsions and paroxysmal choreoathetosis, familial; Convulsions, infantile, with paroxysmal choreoathetosis, familial; ICCA Infantile convulsions and choreoathetosis

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions)

Experts

1.	Cau, Pierre: 1 article (02/2002)
2.	Massacrier, Annick: 1 article (02/2002)
3.	Pereira, Sandrine: 1 article (02/2002)
4.	Robaglia-Schlupp, Andrée: 1 article (02/2002)
5.	Roll, Patrice: 1 article (02/2002)
6.	Szepetowski, Pierre: 1 article (02/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to familial Infantile convulsions and paroxysmal choreoathetosis:

1.	Sodium-Glucose Transport ProteinsIBA 02/20/2002 - "New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families."