Published in Epilepsy Res on June 18, 2007
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology (2013) 1.61
Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia (2010) 1.51
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. Mol Autism (2014) 1.10
Sexually dimorphic expression of KCC2 and GABA function. Epilepsy Res (2008) 1.10
GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. J Biol Chem (2012) 0.98
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet (2009) 0.97
Clcn2 encodes the hyperpolarization-activated chloride channel in the ducts of mouse salivary glands. Am J Physiol Gastrointest Liver Physiol (2008) 0.94
Neurochemical and behavioral features in genetic absence epilepsy and in acutely induced absence seizures. ISRN Neurol (2013) 0.76
Chloride channelopathies of ClC-2. Int J Mol Sci (2013) 0.76
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
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Abundant pleiotropy in human complex diseases and traits. Am J Hum Genet (2011) 3.60
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
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab (2009) 2.78
Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. Mol Biol Evol (2006) 2.54
The protocols for the 10/66 dementia research group population-based research programme. BMC Public Health (2007) 2.54
Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis. Psychiatr Genet (2006) 2.50
Delineation of the motor disorder of Lesch-Nyhan disease. Brain (2006) 2.30
Antiepileptic drug therapy: does mechanism of action matter? Epilepsy Behav (2011) 2.20
Omega-3 fatty acids supplementation in children with autism: a double-blind randomized, placebo-controlled pilot study. Biol Psychiatry (2006) 2.17
Vagus nerve stimulation for drug-resistant epilepsy: a European long-term study up to 24 months in 347 children. Epilepsia (2014) 2.15
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data. Epilepsia (2007) 2.13
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
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet (2005) 2.06
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet (2005) 2.05
Methadone versus buprenorphine in pregnant addicts: a double-blind, double-dummy comparison study. Addiction (2006) 2.04
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain (2013) 2.02
Primary salivary clear cell tumors--a diagnostic approach: a clinicopathologic and immunohistochemical study of 20 patients with clear cell carcinoma, clear cell myoepithelial carcinoma, and epithelial-myoepithelial carcinoma. Arch Pathol Lab Med (2002) 1.99
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet (2003) 1.96
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94
Admixture in Mexico City: implications for admixture mapping of type 2 diabetes genetic risk factors. Hum Genet (2006) 1.93
Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol (2011) 1.88
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet (2010) 1.83
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
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
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol (2002) 1.77
Association of a functional BDNF polymorphism and anxiety-related personality traits. Psychopharmacology (Berl) (2005) 1.77
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol (2009) 1.73
Non-replication of association studies: "pseudo-failures" to replicate? Genet Med (2007) 1.62
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 and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61
The 10/66 Dementia Research Group's fully operationalised DSM-IV dementia computerized diagnostic algorithm, compared with the 10/66 dementia algorithm and a clinician diagnosis: a population validation study. BMC Public Health (2008) 1.60
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet (2013) 1.59
Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol (2006) 1.56
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol (2006) 1.55
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol (2011) 1.55
Malformations of cortical development and epilepsy. Dialogues Clin Neurosci (2008) 1.53
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. PLoS Genet (2013) 1.52
Is refractory epilepsy preventable? Epilepsia (2002) 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
Outcome following decompressive craniectomy for malignant middle cerebral artery infarction in children. Dev Med Child Neurol (2010) 1.50
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant. Pediatr Nephrol (2010) 1.49
The ketogenic diet improves recently worsened focal epilepsy. Dev Med Child Neurol (2008) 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
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain (2010) 1.47
18F-FDG PET reveals frontotemporal dysfunction in children with fever-induced refractory epileptic encephalopathy. J Nucl Med (2010) 1.46
Epilepsy as a consequence of cerebral malaria in area in which malaria is endemic in Mali, West Africa. Epilepsia (2006) 1.45
Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood? Epilepsia (2006) 1.43
Course and outcome of childhood epilepsy: a 15-year follow-up of the Dutch Study of Epilepsy in Childhood. Epilepsia (2010) 1.41
Human aging magnifies genetic effects on executive functioning and working memory. Front Hum Neurosci (2008) 1.41
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. EMBO J (2013) 1.40
Acute symptomatic seizures--should we retain the term? Epilepsia (2010) 1.40
Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children. Dev Med Child Neurol (2013) 1.40
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol (2004) 1.40
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet (2013) 1.40
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus? Dev Med Child Neurol (2008) 1.39
Are children with acute arterial ischaemic stroke eligible for hyperacute thrombolysis? A retrospective audit from a tertiary UK centre. Dev Med Child Neurol (2014) 1.39
Severe memory impairment in a child with bihippocampal injury after status epilepticus. Dev Med Child Neurol (2006) 1.39
Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. Dev Med Child Neurol (2014) 1.39
Long-term consequences of polycystic ovary syndrome: results of a 31 year follow-up study. Hum Fertil (Camb) (2000) 1.39
Microalbuminuria and coronary heart disease risk in an ethnically diverse UK population: a prospective cohort study. J Am Soc Nephrol (2005) 1.38
Seizure-alerting and -response behaviors in dogs living with epileptic children. Neurology (2004) 1.38
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A (2006) 1.38
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain (2002) 1.37
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet (2009) 1.37
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol (2005) 1.37
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology (2012) 1.35