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

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

doi:10.1111/epi.12007

Cited by 106 publications

(100 citation statements)

References 14 publications

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“…A number of epilepsy types are closely associated with specific metabolic conditions (Table 4), [8][9][10] and some metabolic conditions, if identified early, can respond well to specific interventions. 8 Namely glucose transporter 1 deficiency syndrome (GLUT1) deficiency when managed with the ketogenic diet, and cofactor dependent epilepsy, according to the deficiency, will respond to pyridoxine, pyridoxal phosphate, folinic acid, and biotin.…”

Section: Topic Recommendationmentioning

confidence: 99%

Summary of recommendations for the management of infantile seizures: TaskForceReport for theILAE Commission ofPediatrics

et al. 2015

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Summary Evidence‐based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or “state of the art” interventions. The incidence of epilepsy in the infantile period is the highest of all age groups (strong evidence), with epileptic spasms the largest single subgroup and, in the first 2 years of life, febrile seizures are the most commonly occurring seizures. Acute intervention at the time of a febrile seizure does not alter the risk for subsequent epilepsy (class 1 evidence). The use of antipyretic agents does not alter the recurrence rate (class 1 evidence), and there is no evidence to support initiation of regular antiepileptic drugs for simple febrile seizures (class 1 evidence). Infants with abnormal movements whose routine electroencephalography (EEG) study is not diagnostic, would benefit from video‐EEG analysis, or home video to capture events (expert opinion, level U recommendation). Neuroimaging is recommended at all levels of care for infants presenting with epilepsy, with magnetic resonance imaging (MRI) recommended as the standard investigation at tertiary level (level A recommendation). Genetic screening should not be undertaken at primary or secondary level care (expert opinion). Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet syndrome, and other infantile‐onset epileptic encephalopathies, should be available in tertiary care (weak evidence, level C recommendation). Patients should be referred from primary or secondary to tertiary level care after failure of one antiepileptic drug (standard care) and optimal care equates to referral of all infants after presentation with a seizure (expert opinion, level U evidence). Infants with recurrent seizures warrant urgent assessment for initiation of antiepileptic drugs (expert opinion, level U recommendation). Infantile encephalopathies should have rapid introduction and increment of antiepileptic drug dosage (expert opinion, level U recommendation). There is no high level evidence to support any particular current agents for use in infants with seizures. For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide,...

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Section: Topic Recommendationmentioning

confidence: 99%

Summary of recommendations for the management of infantile seizures: TaskForceReport for theILAE Commission ofPediatrics

et al. 2015

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“…The tool operates on distributed metabolic changes across the whole brain to diagnose and lateralise epileptogenic sites and can work both independently and alongside expert analysis [217]. As already mentioned in the Introduction, defects in GLUT1 are increasingly being recognised as the cause of some genetic generalised epilepsies including early-onset absence epilepsy [58,59] and familial idiopathic generalized epilepsy [60].…”

Section: Alzheimer's Diseasementioning

confidence: 99%

Roles of facilitative glucose transporter GLUT1 in [18F]FDG positron emission tomography (PET) imaging of human diseases

Patching¹

2015

J Diagn Imaging Ther

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The facilitative glucose transport protein GLUT1 has important roles in positron emission tomography (PET) imaging of human diseases. GLUT1 has widespread expression and catalyses the energyindependent facilitated diffusion of glucose down its concentration gradient across red blood cell membranes, blood-brain and blood-tissue barriers and membranes of some oragnelles. Import is usually the prevailing direction of transport for providing metabolic fuel, especially in proliferating cells. PET imaging using 2-deoxy-2-[ 18

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“…The following year, two families comprised of 15 subjects with SLC2A1 were then published, of which 10 had absence-type epilepsy (4). This current publication in Epilepsia by the same group was designed to confirm the 2009 study results and determine the incidence of SLC2A1 mutations in another, slightly larger (55 patients) cohort with EOAE (5).…”

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confidence: 99%

“…What was perhaps the most disappointing was the low implementation of dietary management for these children, despite the authors appropriately stating in their discussions that "the ketogenic diet is the treatment of choice for GLUT1 encephalopathy" (3) and "earlier consideration of the ketogenic diet may lead to seizure control and improved cognitive outcome" (5). In all three series combined, only 4 of 21 (19%) with absence epilepsy were treated with the ketogenic diet (3)(4)(5).…”

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confidence: 99%

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A Sweet Cause of Toddlers with Absence Seizures

Kossoff¹

2013

Epilepsy Curr

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In Clinical Science Commentary Early-onset absence epilepsy (EOAE), or the onset of absence seizures at an age less than 4 years, may be different than classic childhood absence epilepsy (1). Seizures can be more atypical and require anticonvulsants in polypharmacy (2). Although less common than typical childhood absence epilepsy, children with EOAE can comprise a significant portion of a referral pediatric epilepsy practice. Recent evidence has suggested that some patients with EOAE may have GLUT1 (glucose transporter 1) deficiency as the cause of their epilepsy (3-5). Although this concept has gained in popularity in the past few years, it was first formally proposed as a possibility by Dr. Larry Hirsch in an editorial (6). Dr. Arsov and the group from the Epilepsy Research Centre at the University of Melbourne have been the major researchers adding to this evolving GLUT1 story since 2009, with nearly annual publications linking the two conditions (3-5). The spectrum of GLUT1 deficiency continues to expand rapidly, largely due in part to the widespread availability of the genetic test SLC2A1 (solute carrier family 2, member 1). This serum test is certainly simpler to obtain than the more cumbersome lumbar puncture previously required for diagnosis. As a result, GLUT1 has been recently associated with conditions other than epilepsy, including paroxysmal exertional dyskinesia, alternating hemiplegia of childhood, hemolytic anemia, and paroxysmal choreoathetosis with spasticity (7). In 2009, Suls and colleagues started their work by reporting the results of screening 34 children with EOAE. They

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

Cited by 106 publications

References 14 publications

Summary of recommendations for the management of infantile seizures: TaskForceReport for theILAE Commission ofPediatrics

Summary of recommendations for the management of infantile seizures: TaskForceReport for theILAE Commission ofPediatrics

Roles of facilitative glucose transporter GLUT1 in [18F]FDG positron emission tomography (PET) imaging of human diseases

A Sweet Cause of Toddlers with Absence Seizures

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