Atypical presentation of <i>SLC30A10</i> gene mutation with hypermanganesemia, seizures and polycythemia.

Jagadish, Spoorthi; Howard, Lillian; Thati Ganganna, Sreenath

Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia.

Jagadish, Spoorthi; Howard, Lillian; Thati Ganganna, Sreenath.

Afiliação

Jagadish S; Department of Pediatric Neurology, University of Iowa, United States.
Howard L; Department of Pediatric Neurology, University of Iowa, United States.
Thati Ganganna S; Department of Pediatric Neurology, University of Iowa, United States.

Epilepsy Behav Rep ; 16: 100505, 2021.

Article em En | MEDLINE | ID: mdl-34877518

Palavras-chave

ADHD, attention deficit hyperactivity disorder; ALT, alanine transaminase; AST, aspartate transaminase; CBC, complete blood count; Dystonia; EEG, electroencephalogram; Hypermanganesemia; MCH, mean corpuscular hemoglobin; MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume; MRI, magnetic resonance imaging; Mn, Manganese; Polycythemia; RDW, red cell distribution width; SLC30A10 gene mutation; Seizures; T1 hyperintensity; TIBC, total iron binding capacity

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Epilepsy Behav Rep Ano de publicação: 2021 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Epilepsy Behav Rep Ano de publicação: 2021 Tipo de documento: Article