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English Journal

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.SourceDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, China.
Neuroscience letters.Neurosci Lett.2013 Sep 27;552:40-5. doi: 10.1016/j.neulet.2013.07.020. Epub 2013 Jul 26.
Benign familial infantile seizure (BFIS) and paroxysmal kinesigenic dyskinesia (PKD) are autosomal-dominant inherited self-limited neurological disorders. BFIS is characterized by clusters of epileptic seizures in infancy while, in some cases, infantile seizures and adolescent-onset paroxysmal kines
PMID 23896529

Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.

Wang K, Zhao X, Du Y, He F, Peng G, Luo B.SourceDepartment of Neurology, The First Affiliated Hospital, School of Medicine, Zhejiang University, China.
Brain & development.Brain Dev.2013 Aug;35(7):664-6. doi: 10.1016/j.braindev.2012.07.018. Epub 2012 Aug 16.
Paroxysmal dyskinesia (PD) is a group of rare neurological conditions which was divided into paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD) and paroxysmal exercise-induced dyskinesia (PED) according to their clinical features. PRRT2 gene was initially identifie
PMID 22902309

Torisu H, Watanabe K, Shimojima K, Sugawara M, Sanefuji M, Ishizaki Y, Sakai Y, Yamashita H, Yamamoto T, Hara T.SourceDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pediatrics, Fukuoka Dental College Medical and Dental Hospital, Fukuoka, Japan. Electronic address: htorys@pediatr.med.kyushu-u.ac.jp.
Brain & development.Brain Dev.2013 Jun 11. pii: S0387-7604(13)00173-3. doi: 10.1016/j.braindev.2013.05.009. [Epub ahead of print]
This paper documents the case of a female Japanese patient with infantile focal epilepsy, which was different from benign infantile seizures, and a family history of infantile convulsion and paroxysmal choreoathetosis. The patient developed partial seizures (e.g., psychomotor arrest) at age 14months
PMID 23768507