Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants

Ananyaa Kumar; Csaba Juhász; Aimee Luat; Tuhina Govil-Dalela; Michael E Behen; Melissa A Hicks; Harry T Chugani

doi:10.1177/0883073818796373

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Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants

Journal article

Peer reviewed

Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants

Ananyaa Kumar, Csaba Juhász, Aimee Luat, Tuhina Govil-Dalela, Michael E Behen, Melissa A Hicks and Harry T Chugani

Journal of child neurology, Vol.33(13), pp.832-836

11/2018

DOI: 10.1177/0883073818796373

PMID: 30182801

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Abstract

Three children with drug-refractory epilepsy, normal magnetic resonance image (MRI), and a heterozygous SCN1A variant underwent 2-deoxy-2-[ F]fluoro-d-glucose positron emission tomography (FDG-PET) scanning between age 6 months and 1 year and then at age 3 years 6 months to 5 years 5 months. Regional FDG uptake values were compared to those measured in age- and gender-matched pseudo-controls. At baseline, the brain glucose metabolic pattern in the SCN1A group was similar to that of the pseudo-controls. At follow-up, robust decreases of normalized FDG uptake was found in bilateral frontal, parietal and temporal cortex, with milder decreases in occipital cortex. Children with epilepsy and an SCN1A variant have a normal pattern of cerebral glucose metabolism at around 1 year of age but develop bilateral cortical glucose hypometabolism by age 4 years, with maximal decreases in frontal, parietal, and temporal cortex. This metabolic pattern may be characteristic of epilepsy associated with SCN1A variants and may serve as a biomarker to monitor disease progression and response to treatments.

Brain - diagnostic imaging

Brain - metabolism

Child

Child, Preschool

Epilepsy - complications

Epilepsy - diagnostic imaging

Epilepsy - genetics

Female

Fluorodeoxyglucose F18 - pharmacokinetics

Glucose Metabolism Disorders - complications

Glucose Metabolism Disorders - diagnostic imaging

Glucose Metabolism Disorders - genetics

Humans

Longitudinal Studies

Male

Mutation - genetics

NAV1.1 Voltage-Gated Sodium Channel - genetics

Positron-Emission Tomography

Retrospective Studies

Details

Title: Subtitle: Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants
Creators: Ananyaa Kumar - Children's Hospital of Michigan
Csaba Juhász - Wayne State University
Aimee Luat - Wayne State University
Tuhina Govil-Dalela - Wayne State University
Michael E Behen - Wayne State University
Melissa A Hicks - DMC University Laboratories
Harry T Chugani - Wayne State University
Resource Type: Journal article
Publication Details: Journal of child neurology, Vol.33(13), pp.832-836
DOI: 10.1177/0883073818796373
PMID: 30182801
NLM abbreviation: J Child Neurol
ISSN: 0883-0738
eISSN: 1708-8283
Language: English
Date published: 11/2018
Academic Unit: Stead Family Department of Pediatrics
Record Identifier: 9984961028402771

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