Novel metabolic signatures of compound heterozygous <i>Szt2</i> variants in a case of early-onset of epileptic encephalopathy.

Uittenbogaard, Martine; Gropman, Andrea; Brantner, Christine A; Chiaramello, Anne

Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early-onset of epileptic encephalopathy.

Uittenbogaard, Martine; Gropman, Andrea; Brantner, Christine A; Chiaramello, Anne.

Afiliación

Uittenbogaard M; Department of Anatomy and Regenerative Biology George Washington University School of Medicine and Health Sciences Washington District of Columbia.
Gropman A; Division of Neurogenetics and Developmental Pediatrics Children's National Medical Center Washington District of Columbia.
Brantner CA; GW Nanofabrication and Imaging Center Office of the Vice President for Research George Washington University Washington District of Columbia.
Chiaramello A; Department of Anatomy and Regenerative Biology George Washington University School of Medicine and Health Sciences Washington District of Columbia.

Clin Case Rep ; 6(12): 2376-2384, 2018 Dec.

Article en En | MEDLINE | ID: mdl-30564332

Palabras clave

compound heterozygous mutations; energy metabolism; epileptic encephalopathy; seizure threshold 2 gene; wholeexome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2018 Tipo del documento: Article