Published in Epilepsia on March 22, 2007
Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction. Nat Rev Neurosci (2013) 1.35
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain (2011) 1.26
"Epileptic encephalopathy" of infancy and childhood: electro-clinical pictures and recent understandings. Curr Neuropharmacol (2010) 0.85
Epileptic encephalopathies in adults and childhood. Epilepsy Res Treat (2012) 0.77
Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study. Iran J Child Neurol (2013) 0.75
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. Epilepsy Behav (2015) 0.75
Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation. Childs Nerv Syst (2016) 0.75
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
MODBASE, a database of annotated comparative protein structure models, and associated resources. Nucleic Acids Res (2004) 4.54
ABVD versus BEACOPP for Hodgkin's lymphoma when high-dose salvage is planned. N Engl J Med (2011) 4.50
Brain inflammation in epilepsy: experimental and clinical evidence. Epilepsia (2005) 3.87
MODBASE: a database of annotated comparative protein structure models and associated resources. Nucleic Acids Res (2006) 3.56
A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A (2006) 3.55
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
Seizure-promoting effect of blood-brain barrier disruption. Epilepsia (2007) 3.00
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Sarcopenic obesity: a new category of obesity in the elderly. Nutr Metab Cardiovasc Dis (2008) 2.56
Prognostic scoring system for primary CNS lymphomas: the International Extranodal Lymphoma Study Group experience. J Clin Oncol (2003) 2.44
Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ: visualizing the therapeutic effects of metformin in tumor tissue. Cell Cycle (2011) 2.39
Italian multicenter experience with flow-diverter devices for intracranial unruptured aneurysm treatment with periprocedural complications--a retrospective data analysis. Neuroradiology (2012) 2.31
Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases. Eur J Paediatr Neurol (2012) 2.23
Extracorporeal shock-wave therapy compared with surgery for hypertrophic long-bone nonunions. J Bone Joint Surg Am (2009) 2.18
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data. Epilepsia (2007) 2.13
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Effects of physical activity on strength and skeletal muscle fat infiltration in older adults: a randomized controlled trial. J Appl Physiol (1985) (2008) 2.06
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry (2006) 2.05
Long-term cognitive and behavioral therapies, combined with augmentative communication, are related to uncinate fasciculus integrity in autism. J Autism Dev Disord (2012) 2.03
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain (2013) 2.02
Posterior reversible encephalopathy syndrome (PRES) in critically ill obstetric patients. Intensive Care Med (2003) 2.02
Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet (2003) 2.00
Binding affinity and specificity of neuromyelitis optica autoantibodies to aquaporin-4 M1/M23 isoforms and orthogonal arrays. J Biol Chem (2011) 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
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94
Aquaporin-4 orthogonal arrays of particles are the target for neuromyelitis optica autoantibodies. Glia (2009) 1.93
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J (2007) 1.92
Caveolin-1-/- null mammary stromal fibroblasts share characteristics with human breast cancer-associated fibroblasts. Am J Pathol (2009) 1.87
Location matters: site of conjugation modulates stability and pharmacokinetics of antibody drug conjugates. Chem Biol (2013) 1.82
Experimental designs for small randomised clinical trials: an algorithm for choice. Orphanet J Rare Dis (2013) 1.77
The genetics of Dravet syndrome. Epilepsia (2011) 1.77
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Antagonism of peripheral inflammation reduces the severity of status epilepticus. Neurobiol Dis (2008) 1.74
Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol (2009) 1.73
Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol (2006) 1.73
The ring 14 syndrome: clinical and molecular definition. Am J Med Genet A (2009) 1.70
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet (2003) 1.67
A case of Guillain-Barrè syndrome following Staphylococcus aureus endocarditis. Int J Cardiol (2006) 1.67
An unusual case of neurocutaneous melanosis. Epileptic Disord (2004) 1.65
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet (2008) 1.62
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology (2013) 1.61
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 1.61
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. Epilepsy Res (2009) 1.59
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet (2008) 1.59
A multicenter retrospective clinical study of CD5/CD10-negative chronic B cell leukemias. Am J Hematol (2008) 1.57
Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol (2006) 1.56
Abnormal neuroimaging in patients with benign epilepsy with centrotemporal spikes. Epilepsia (2003) 1.56
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55
Complement-dependent cytotoxicity in neuromyelitis optica requires aquaporin-4 protein assembly in orthogonal arrays. J Biol Chem (2012) 1.55
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol (2011) 1.55
Proposal for a multidimensional staging system for chronic obstructive pulmonary disease. Respir Med (2005) 1.54
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families. J Neurol (2007) 1.54
Malformations of cortical development and epilepsy. Dialogues Clin Neurosci (2008) 1.53
Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology (2014) 1.52
Proposed criteria for referral and evaluation of children for epilepsy surgery: recommendations of the Subcommission for Pediatric Epilepsy Surgery. Epilepsia (2006) 1.52
Posterior reversible encephalopathy syndrome in intensive care medicine. Intensive Care Med (2006) 1.52
Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia (2010) 1.51
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant. Pediatr Nephrol (2010) 1.49
Epileptic spasms and partial seizures as a single ictal event. Epilepsia (2003) 1.48
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology (2012) 1.48
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet (2012) 1.48
FcgammaRIIIA and FcgammaRIIA polymorphisms do not predict clinical outcome of follicular non-Hodgkin's lymphoma patients treated with sequential CHOP and rituximab. Haematologica (2007) 1.47
Increasing serum half-life and extending cholesterol lowering in vivo by engineering antibody with pH-sensitive binding to PCSK9. J Biol Chem (2012) 1.46
Phenotypic characterization of hypomyelination and congenital cataract. Ann Neurol (2007) 1.46
Sleep-related, low voltage Rolandic and vertex spikes: an EEG marker of benignity in infancy-onset focal epilepsies. Epileptic Disord (2002) 1.46