Published in Expert Rev Neurother on June 14, 2014
Hyperconnectivity in juvenile myoclonic epilepsy: a network analysis. Neuroimage Clin (2014) 0.81
Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves. Mol Genet Genomic Med (2016) 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
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol (2012) 4.12
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
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
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (2012) 2.98
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol (2007) 2.88
Natural history of treated childhood-onset epilepsy: prospective, long-term population-based study. Brain (2006) 2.63
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
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
Placebo-corrected efficacy of modern antiepileptic drugs for refractory epilepsy: systematic review and meta-analysis. Epilepsia (2009) 2.38
SCN1A mutations and epilepsy. Hum Mutat (2005) 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
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol (2010) 2.23
Central retinal artery occlusion: local intra-arterial fibrinolysis versus conservative treatment, a multicenter randomized trial. Ophthalmology (2010) 2.21
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet (2009) 2.12
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet (2013) 2.10
Modern antiepileptic drug development has failed to deliver: ways out of the current dilemma. Epilepsia (2011) 2.08
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
Enzyme induction with antiepileptic drugs: cause for concern? Epilepsia (2012) 2.06
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol (2007) 2.00
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain (2013) 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
Paroxysmal motor disorders of sleep: the clinical spectrum and differentiation from epilepsy. Epilepsia (2006) 1.94
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94
The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia (2008) 1.91
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet (2012) 1.91
Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol (2011) 1.88
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Proc Natl Acad Sci U S A (2007) 1.82
Seizure-associated hippocampal volume loss: a longitudinal magnetic resonance study of temporal lobe epilepsy. Ann Neurol (2002) 1.82
Anxiety in patients with epilepsy: systematic review and suggestions for clinical management. Epilepsy Behav (2005) 1.78
Tramadol and new-onset seizures. Med J Aust (2005) 1.77
Mechanisms of human inherited epilepsies. Prog Neurobiol (2008) 1.75
Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol (2006) 1.73
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology (2013) 1.72
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain (2006) 1.72
Is benign rolandic epilepsy genetically determined? Ann Neurol (2004) 1.68
Sodium channels and the neurobiology of epilepsy. Epilepsia (2012) 1.66
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet (2004) 1.65
New avenues for anti-epileptic drug discovery and development. Nat Rev Drug Discov (2013) 1.63
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol (2014) 1.62
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. Brain (2004) 1.54
High-resolution MRI in giant cell arteritis: imaging of the wall of the superficial temporal artery. AJR Am J Roentgenol (2005) 1.51
Genetic association studies in epilepsy: "the truth is out there". Epilepsia (2004) 1.51
Channelopathies in idiopathic epilepsy. Neurotherapeutics (2007) 1.49
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet (2010) 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
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. Dev Med Child Neurol (2013) 1.44
Weight change associated with antiepileptic drugs. J Neurol Neurosurg Psychiatry (2012) 1.43
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain (2008) 1.41
Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance. Epilepsia (2003) 1.40
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia (2007) 1.40
Changes in cortical excitability differentiate generalized and focal epilepsy. Ann Neurol (2007) 1.35
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology (2012) 1.35
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. J Neurosci (2010) 1.33
Channelopathies as a genetic cause of epilepsy. Curr Opin Neurol (2003) 1.32
New Horizons in the development of antiepileptic drugs: Innovative strategies. Epilepsy Res (2006) 1.32
Timing of de novo mutagenesis--a twin study of sodium-channel mutations. N Engl J Med (2010) 1.28
Experimental and clinical evidence for loss of effect (tolerance) during prolonged treatment with antiepileptic drugs. Epilepsia (2006) 1.26
Brivaracetam as adjunctive treatment for uncontrolled partial epilepsy in adults: a phase III randomized, double-blind, placebo-controlled trial. Epilepsia (2013) 1.25
Evidence of MEN-2 in the original description of classic pheochromocytoma. N Engl J Med (2007) 1.24
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet (2013) 1.23
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia (2009) 1.23
Modern management of epilepsy: a practical approach. Epilepsy Behav (2008) 1.22
Recent advances in the molecular genetics of epilepsy. J Med Genet (2013) 1.21
Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. J Clin Invest (2010) 1.21
Hippocampal pathology in refractory temporal lobe epilepsy: T2-weighted signal change reflects dentate gliosis. Neurology (2002) 1.20
MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. AJNR Am J Neuroradiol (2004) 1.18
The genetics of human epilepsy. Trends Pharmacol Sci (2003) 1.17
Susceptibility genes for complex epilepsy. Hum Mol Genet (2005) 1.17
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol (2014) 1.15
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy. Proc Natl Acad Sci U S A (2002) 1.14
Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann Neurol (2004) 1.14
Occipital epilepsies: identification of specific and newly recognized syndromes. Brain (2003) 1.13
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol (2011) 1.11
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet (2011) 1.11
SCN1A testing for epilepsy: application in clinical practice. Epilepsia (2013) 1.10
Axon initial segment dysfunction in epilepsy. J Physiol (2010) 1.10
Does variation in NIPA2 contribute to genetic generalized epilepsy? Hum Genet (2014) 1.10
Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol (2012) 1.08
Early seizure frequency and aetiology predict long-term medical outcome in childhood-onset epilepsy. Brain (2009) 1.08
Assessment of the role of FDG PET in the diagnosis and management of children with refractory epilepsy. Eur J Nucl Med Mol Imaging (2005) 1.08
Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia (2006) 1.07
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy. Ann Neurol (2013) 1.07
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. Mol Pharmacol (2008) 1.07
GENETICS. The Human Variome Project. Science (2008) 1.07
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain (2003) 1.07
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. Epilepsia (2008) 1.05