Expanding the phenotypic spectrum of pathogenic variants in the PRRT2 gene: bilateral papilledema and abducens nerve palsies secondary to pseudotumor cerebri syndrome.

Ng, Jonathan K Y; Sadia, Rehana; Ram, Dipak; Jones, Elizabeth A; Biswas, Susmito

Ng, Jonathan K Y; Sadia, Rehana; Ram, Dipak; Jones, Elizabeth A; Biswas, Susmito.

Afiliação

Ng JKY; Manchester Royal Eye Hospital, Manchester, United Kingdom. Electronic address: jonathan.ng@doctors.org.uk.
Sadia R; Manchester Royal Eye Hospital, Manchester, United Kingdom.
Ram D; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
Biswas S; Manchester Royal Eye Hospital, Manchester, United Kingdom.

J AAPOS ; 25(6): 364-366, 2021 12.

Article em En | MEDLINE | ID: mdl-34478843

Assuntos

Doenças do Nervo Abducente; Papiledema; Pseudotumor Cerebral; Doenças do Nervo Abducente/etiologia; Doenças do Nervo Abducente/genética; Criança; Feminino; Humanos; Proteínas de Membrana/genética; Proteínas do Tecido Nervoso/genética; Papiledema/diagnóstico; Papiledema/etiologia; Pseudotumor Cerebral/complicações; Pseudotumor Cerebral/diagnóstico; Pseudotumor Cerebral/tratamento farmacológico

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudotumor Cerebral / Papiledema / Doenças do Nervo Abducente Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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