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

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

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

Three children with drug-refractory epilepsy, normal magnetic resonance image (MRI), and a heterozygous SCN1A variant underwent 2-deoxy-2-[¹⁸F]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.

Original language	English
Pages (from-to)	832-836
Number of pages	5
Journal	Journal of Child Neurology
Volume	33
Issue number	13
DOIs	https://doi.org/10.1177/0883073818796373
State	Published - Nov 1 2018

Keywords

FDG-PET
SCN1A
epilepsy
genetics
longitudinal

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title = "Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants",

abstract = "Three children with drug-refractory epilepsy, normal magnetic resonance image (MRI), and a heterozygous SCN1A variant underwent 2-deoxy-2-[18F]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.",

keywords = "FDG-PET, SCN1A, epilepsy, genetics, longitudinal",

author = "Ananyaa Kumar and Csaba Juh{\'a}sz and Aimee Luat and Tuhina Govil-Dalela and Behen, {Michael E.} and Hicks, {Melissa A.} and Chugani, {Harry T.}",

note = "Funding Information: The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported partly by a grant from the National Institute of Neurological Disorders and Stroke (NS041922, to CJ). Publisher Copyright: {\textcopyright} The Author(s) 2018.",

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AU - Luat, Aimee

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AU - Behen, Michael E.

AU - Hicks, Melissa A.

AU - Chugani, Harry T.

N1 - Funding Information: The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported partly by a grant from the National Institute of Neurological Disorders and Stroke (NS041922, to CJ). Publisher Copyright: © The Author(s) 2018.

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N2 - Three children with drug-refractory epilepsy, normal magnetic resonance image (MRI), and a heterozygous SCN1A variant underwent 2-deoxy-2-[18F]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.

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

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