Published in Ann Neurol on September 01, 2009
Crystal structure of the human glucose transporter GLUT1. Nature (2014) 2.12
Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia (2010) 1.51
Genetic testing in epilepsy: what should you be doing? Epilepsy Curr (2011) 1.39
Genetically complex epilepsies, copy number variants and syndrome constellations. Genome Med (2010) 0.98
Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 0.92
Classification and epilepsy: the future awaits. Epilepsy Curr (2011) 0.90
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. Mol Cell (2015) 0.89
GLUT, SGLT, and SWEET: Structural and mechanistic investigations of the glucose transporters. Protein Sci (2016) 0.87
Future directions for epidemiology in epilepsy. Epilepsy Behav (2011) 0.84
Genetic variations and associated pathophysiology in the management of epilepsy. Appl Clin Genet (2011) 0.82
Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol (2010) 0.82
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. J Inherit Metab Dis (2011) 0.80
Dentate gyrus network dysfunctions precede the symptomatic phase in a genetic mouse model of seizures. Front Cell Neurosci (2013) 0.78
Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy. PLoS One (2015) 0.76
GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder. Eur J Med Genet (2011) 0.76
Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature. J Neurol (2014) 0.76
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. Mol Syndromol (2016) 0.75
Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome. Neuroimage Clin (2016) 0.75
"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances. Ital J Pediatr (2011) 0.75
Genetic biomarkers in epilepsy. Neurotherapeutics (2014) 0.75
A sweet cause of toddlers with absence seizures. Epilepsy Curr (2013) 0.75
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. Sci Rep (2017) 0.75
Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review. J Pediatr Neurosci (2014) 0.75
Childhood absence epilepsy as a manifestation of GLUT1 deficiency. Ann Neurol (2010) 0.75
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches. Int J Mol Sci (2017) 0.75
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther (2017) 0.75
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia (2010) 18.28
novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
ILAE official report: a practical clinical definition of epilepsy. Epilepsia (2014) 7.12
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia (2010) 6.23
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol (2011) 5.01
Cost of disorders of the brain in Europe 2010. Eur Neuropsychopharmacol (2011) 4.63
Factors influencing clinical features of absence seizures. Epilepsia (2008) 4.32
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol (2012) 4.12
New concepts in classification of the epilepsies: entering the 21st century. Epilepsia (2011) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet (2003) 3.22
Prediction of seizure likelihood with a long-term, implanted seizure advisory system in patients with drug-resistant epilepsy: a first-in-man study. Lancet Neurol (2013) 3.22
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. Lancet Neurol (2013) 3.06
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet (2006) 3.04
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet (2004) 3.00
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (2012) 2.98
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol (2006) 2.93
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol (2007) 2.88
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet (2004) 2.86
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet (2005) 2.79
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45
Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet (2002) 2.43
Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol (2008) 2.39
SCN1A mutations and epilepsy. Hum Mutat (2005) 2.34
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34
SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet (2006) 2.34
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.32
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30
The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain (2007) 2.30
SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28
Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism? AJNR Am J Neuroradiol (2002) 2.26
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol (2010) 2.23
Antiepileptic drug therapy: does mechanism of action matter? Epilepsy Behav (2011) 2.20
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data. Epilepsia (2007) 2.13
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet (2009) 2.12
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet (2009) 2.12
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet (2013) 2.10
Temporal lobectomy: long-term seizure outcome, late recurrence and risks for seizure recurrence. Brain (2004) 2.08
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet (2012) 2.07
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Acute hepatic injury in four children with Dravet syndrome: valproic acid, topiramate or acetaminophen? Seizure (2007) 2.02
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain (2013) 2.02
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol (2007) 2.00
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol (2006) 1.98
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet (2003) 1.96
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain (2013) 1.95
The new anticonvulsant retigabine favors voltage-dependent opening of the Kv7.2 (KCNQ2) channel by binding to its activation gate. Mol Pharmacol (2005) 1.95
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95
Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94