Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze

Autor: Li-Ping Zhang, Yu Jia, Yu-Ping Wang

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children.Patients and Methods: We report the clinical manifestations and genetic test results of four pediatric PTU patients in China. Recent

Externí odkaz: https://doaj.org/article/aa2bdec03f424f56a24cc94997dc03c1

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

Autor: Marina Dusl, Thomas Klopstock, Silvia Belia, Manuela Wiessner, Peter Bauer, Jan Senderek, Claudia Stendel, Marta Cenciarini, Ehsan Nematian-Ardestani, Mauro Pessia, Maria Cristina D'Adamo

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 11
International journal of molecular sciences 21(11), 3810-(2020). doi:10.3390/ijms21113810
International Journal of Molecular Sciences, Vol 21, Iss 3810, p 3810 (2020)

Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia with typical onset in childhood or early adolescence. The disease is associated with mutations in the voltage-gated calcium channel alpha 1A subunit (Cav2.1) that is encode

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d0938c056a8dbf269380b5f52c91c5

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Febrile Episodic Ataxia with Novel Mutation

Autor: J Gordon Millichap

Publikováno v: Pediatric Neurology Briefs, Vol 18, Iss 1, Pp 8-8 (2004)

An episodic ataxia type 2 (EA2) kindred with ataxic spells induced by fever or high environmental temperature and a novel CACNA1A mutation were identified and reported from the Universities of Mississippi and Minnesota.

Externí odkaz: https://doaj.org/article/ef6b0e7fc7784f6e8757d6bd8e228b6a

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