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Last Updated: 01/07/2026

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Found 30 publications

Genetic epilepsies as a cause of seizures in Neonates.

Genetic epilepsies as a cause of seizures in Neonates.

Journal: Seminars in perinatology
Published: September 08, 2025

Practical experience and challenges in nutritional management of glucose transporter 1 deficiency syndrome: Provider survey results.

Practical experience and challenges in nutritional management of glucose transporter 1 deficiency syndrome: Provider survey results.

Journal: Epilepsia open
Published: October 21, 2024

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model.

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model.

Journal: Neurobiology of disease
Published: June 04, 2024

Is ketogenic diet a 'precision medicine'? Recent developments and future challenges.

Is ketogenic diet a 'precision medicine'? Recent developments and future challenges.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: August 07, 2023

GLUT1DS focus on dysarthria.

GLUT1DS focus on dysarthria.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: June 23, 2023

GLUT-1 transporter deficiency presenting as hemiplegic migraine in an adult.

GLUT-1 transporter deficiency presenting as hemiplegic migraine in an adult.

Journal: Acta neurologica Belgica
Published: May 13, 2023

Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling.

Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling.

Journal: F1000Research
Published: May 24, 2022

16p11.2 haploinsufficiency reduces mitochondrial biogenesis in brain endothelial cells and alters brain metabolism in adult mice.

16p11.2 haploinsufficiency reduces mitochondrial biogenesis in brain endothelial cells and alters brain metabolism in adult mice.

Journal: Cell reports
Published: March 08, 2022

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2.

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2.

Journal: IUBMB life
Published: June 16, 2021

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 22, 2021

Ketogenic diet and cognition in neurological diseases: a systematic review.

Ketogenic diet and cognition in neurological diseases: a systematic review.

Journal: Nutrition reviews
Published: December 23, 2020

Treatment of Disorders of Tone and Other Considerations in Pediatric Movement Disorders.

Treatment of Disorders of Tone and Other Considerations in Pediatric Movement Disorders.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: November 30, 2020
Showing 1-12 of 30

Last Updated: 01/07/2026