Widening phenotypic spectrum of GABBR2 mutation.

Samanta, Debopam; Zarate, Yuri A

Samanta, Debopam; Zarate, Yuri A.

Affiliation

Samanta D; Section of Child Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, 1 Children's Way, Little Rock, AR, 72202, USA. dsamanta@uams.edu.
Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Acta Neurol Belg ; 119(3): 493-496, 2019 Sep.

Article in En | MEDLINE | ID: mdl-30707408

Subject(s)

Developmental Disabilities/genetics; Epilepsy, Absence/genetics; Mutation; Phenotype; Receptors, GABA-B/genetics; Child, Preschool; Humans; Male

Key words

Absence seizure; Epileptic encephalopathy; GABBR2; Intellectual impairment; Rett-like phenotype

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Developmental Disabilities / Epilepsy, Absence / Receptors, GABA-B / Mutation Limits: Child, preschool / Humans / Male Language: En Journal: Acta Neurol Belg Year: 2019 Type: Article Affiliation country: United States

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