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Journal article

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

Todor Arsov, Saul A Mullen, John A Damiano, Kate M Lawrence, Linda L Huh, Melinda Nolan, Helen Young, Anais Thouin, Hans-Henrik M Dahl, Samuel F Berkovic, Douglas E Crompton, Lynette G Sadleir, Ingrid E Scheffer

EPILEPSIA | WILEY-BLACKWELL | Published : 2012

DOI: 10.1111/epi.12007

University of Melbourne Researchers

Saul Mullen's Profile Picture
Saul Mullen Author Medical Education

John Damiano's Profile Picture
John Damiano Author Medicine - Austin Health

Ingrid Scheffer's Profile Picture
Ingrid Scheffer Author Medicine - Austin Health

Douglas Crompton's Profile Picture
Douglas Crompton Author Medical Education

Kate Esnault's Profile Picture
Kate Esnault Author Medicine - Austin Health
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Related Projects (1)

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NHMRC Australia Fellowship

I aim to cement my place as the leading clinical and translational researcher in epilepsy internationally. My research and that of my wider ..

Citation metrics

60Web of Science
70Scopus
72Dimensions

Keywords

Mutations
Clinical Neurology
Monosaccharide Transport Proteins
Neurosciences & Neurology
Science & Technology
Life Sciences & Biomedicine
Haploinsufficiency
Child
Cohort Studies
Female
Inheritance
Blood-Brain-Barrier
Dna Mutational Analysis
Male
Mutation
Adolescent
Glut1 Deficiency
Genetic Generalized Epilepsy
Genetics
Evolution, Molecular
Adult
Animals
Epilepsy, Absence
Glucose Transporter Type 1
Humans
Glucose-Transporter Glut1
Absence
Carbohydrate Metabolism, Inborn Errors
Child, Preschool

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