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Benign familial infantile seizures.
Vigevano F. Vigevano F. Brain Dev. 2005 Apr;27(3):172-7. doi: 10.1016/j.braindev.2003.12.012. Brain Dev. 2005. PMID: 15737697 Review.
Following the identification of a specific marker on chromosome 16, this entity constitutes a variant of the familial forms, called infantile convulsions and choreoathetosis. The age at onset, the semeiology of the seizures and the genetic data disting …
Following the identification of a specific marker on chromosome 16, this entity constitutes a variant of the familial forms, called infan …
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. Ebrahimi-Fakhari D, et al. Brain. 2015 Dec;138(Pt 12):3476-95. doi: 10.1093/brain/awv317. Epub 2015 Nov 23. Brain. 2015. PMID: 26598493 Review.
PRRT2 mutations are found in the majority of patients with benign familial infantile epilepsy, infantile convulsions and choreoathetosis and paroxysmal kinesigenic dyskinesia, confirming a common disease spectrum that had previously been suggested base …
PRRT2 mutations are found in the majority of patients with benign familial infantile epilepsy, infantile convulsions and …
Paroxysmal movement disorders and episodic ataxias.
Fernández-Alvarez E, Perez-Dueñas B. Fernández-Alvarez E, et al. Handb Clin Neurol. 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. Handb Clin Neurol. 2013. PMID: 23622292 Review.
Several clinical entities associated epilepsy with PDs, such as infantile convulsions and choreoathetosis (ICCA). Exercise-induced PD type can be produced by mutations in the SLC2A1 gene that encodes Glut1 (glucose transporter type1). ...
Several clinical entities associated epilepsy with PDs, such as infantile convulsions and choreoathetosis (ICCA) …
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
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. Scheffer IE, et al. Neurology. 2012 Nov 20;79(21):2104-8. doi: 10.1212/WNL.0b013e3182752c6c. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077018 Free PMC article.
Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the phenot …
Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with B …
Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism.
Hattori H, Yorifuji T. Hattori H, et al. Brain Dev. 2000 Oct;22(7):449-50. doi: 10.1016/s0387-7604(00)00180-7. Brain Dev. 2000. PMID: 11102731
This patient's clinical features were phenotypically indistinguishable from those of infantile convulsions and choreoathetosis (ICCA) syndrome...
This patient's clinical features were phenotypically indistinguishable from those of infantile convulsions and chore …
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
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. Okumura A, et al. Seizure. 2019 Oct;71:1-5. doi: 10.1016/j.seizure.2019.05.017. Epub 2019 May 20. Seizure. 2019. PMID: 31154286 Free article.
Among the familial cases, PRRT2 mutations were found in at least one individual in 21 of 28 families with BIE alone, in 26 of 27 families with infantile convulsions and choreoathetosis, and in 2 of 3 families with PKD alone. ...
Among the familial cases, PRRT2 mutations were found in at least one individual in 21 of 28 families with BIE alone, in 26 of 27 families wi …
Benign familial infantile seizures: further delineation of the syndrome.
Caraballo RH, Cersósimo RO, Amartino H, Szepetowski P, Fejerman N. Caraballo RH, et al. J Child Neurol. 2002 Sep;17(9):696-9. doi: 10.1177/088307380201700909. J Child Neurol. 2002. PMID: 12503648
Benign familial infantile seizure is a genetic epilepsy syndrome with autosomal dominant inheritance. It may be associated with paroxysmal choreoathetosis (infantile convulsions and choreoathetosis syndrome), which has been linked to the chromosome 16 …
Benign familial infantile seizure is a genetic epilepsy syndrome with autosomal dominant inheritance. It may be associated with paroxysmal c …
Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.
Wang JL, Mao X, Hu ZM, Li JD, Li N, Guo JF, Jiang H, Shen L, Li J, Shi YT, Xia K, Liu JY, Liao WP, Tang BS. Wang JL, et al. Neurosci Lett. 2013 Sep 27;552:40-5. doi: 10.1016/j.neulet.2013.07.020. Epub 2013 Jul 26. Neurosci Lett. 2013. PMID: 23896529
BFIS is characterized by clusters of epileptic seizures in infancy while, in some cases, infantile seizures and adolescent-onset paroxysmal kinesigenic choreoathetosis co-occurred, which is called infantile convulsions and choreoathetosis (ICCA) syndro …
BFIS is characterized by clusters of epileptic seizures in infancy while, in some cases, infantile seizures and adolescent-onset paroxysmal …
Unusual variability of PRRT2 linked phenotypes within a family.
Brueckner F, Kohl B, Puest B, Gassner S, Osseforth J, Lindenau M, Stodieck S, Biskup S, Lohmann E. Brueckner F, et al. Eur J Paediatr Neurol. 2014 Jul;18(4):540-2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8. Eur J Paediatr Neurol. 2014. PMID: 24755245
BACKGROUND: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infa …
BACKGROUND: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a caus …