Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes

The glucose transporter type 1 (Glut1) syndromes

(2018) Henner Koch et al.   EPILEPSY & BEHAVIOR

Atypical Manifestations in Glut1 Deficiency Syndrome

(2016) V. De Giorgis et al.   JOURNAL OF CHILD NEUROLOGY

Use of dietary therapies amongst patients with GLUT1 deficiency syndrome

(2016) Hannah R. Kass et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The role ofSLC2A1mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

(2015) Jan Larsen et al.   EPILEPSIA

Refractory Absence Epilepsy and Glut1 Deficiency Syndrome: A New Case Report and Literature Review

(2014) Francesca Ragona et al.   NEUROPEDIATRICS

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome

(2013) Wilhelmina G. Leen et al.   JAMA Neurology

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

(2012) Todor Arsov et al.   ANNALS OF NEUROLOGY

Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes

(2012) Amanda W. Pong et al.   EPILEPSIA

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

(2012) Todor Arsov et al.   EPILEPSIA

Early-onset absence epilepsy:SLC2A1gene analysis and treatment evolution

(2012) S. Agostinelli et al.   EUROPEAN JOURNAL OF NEUROLOGY

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

(2012) P. Striano et al.   NEUROLOGY

Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience

(2012) Yanyan Liu et al.   PEDIATRIC NEUROLOGY

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

(2011) Saul A. Mullen   ARCHIVES OF NEUROLOGY

Glut1 deficiency: When to suspect and how to diagnose?

(2011) A. Verrotti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation

(2010) Aintzane Urbizu et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

(2010) S. A. Mullen et al.   NEUROLOGY

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1

(2009) Arvid Suls et al.   ANNALS OF NEUROLOGY

The expanding phenotype of GLUT1-deficiency syndrome

(2009) Knut Brockmann   BRAIN & DEVELOPMENT

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

(2009) Susanne A. Schneider et al.   MOVEMENT DISORDERS

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

(2008) Yvonne G. Weber et al.   JOURNAL OF CLINICAL INVESTIGATION

Paroxysmal movement disorders in GLUT1 deficiency syndrome

(2008) G. Zorzi et al.   NEUROLOGY