Published in J Matern Fetal Neonatal Med on May 04, 2012
Electroencephalographic monitoring in the pediatric intensive care unit. Curr Neurol Neurosci Rep (2013) 0.97
Golden hour of neonatal life: Need of the hour. Matern Health Neonatol Perinatol (2017) 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
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
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
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
Proteinuria impairs podocyte regeneration by sequestering retinoic acid. J Am Soc Nephrol (2013) 2.09
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain (2013) 2.02
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
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
Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol (2009) 1.73
The 'headache tree' via umbellulone and TRPA1 activates the trigeminovascular system. Brain (2011) 1.70
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
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis (2011) 1.57
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
Proposed criteria for referral and evaluation of children for epilepsy surgery: recommendations of the Subcommission for Pediatric Epilepsy Surgery. Epilepsia (2006) 1.52
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant. Pediatr Nephrol (2010) 1.49
Thoracentesis in pericardial and pleural effusion caused by central venous catheterization: a less invasive neonatal approach. Paediatr Anaesth (2004) 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
Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med (2012) 1.44
Rescue treatment with terlipressin in different scenarios of refractory hypotension in newborns and infants. Pediatr Crit Care Med (2011) 1.42
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41
Acute symptomatic seizures--should we retain the term? Epilepsia (2010) 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
Aseptic meningitis in neonatal varicella complicated by Escherichia coil sepsis. Eur J Pediatr (2004) 1.39
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
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
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet (2006) 1.33
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology (2012) 1.28
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia (2009) 1.23
Perinatal care at the threshold of viability: an international comparison of practical guidelines for the treatment of extremely preterm births. Pediatrics (2008) 1.21
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia (2007) 1.21
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Eur J Hum Genet (2006) 1.18
New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem (2009) 1.15
Efficacy and safety of ketamine in refractory status epilepticus in children. Neurology (2012) 1.15
Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome. Am J Med Genet A (2004) 1.12
Reciprocal translocations: a trap for cytogenetists? Hum Genet (2005) 1.12
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol (2011) 1.11
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. Acta Neuropathol (2002) 1.10
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet (2011) 1.08
Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study. J Pediatr (2010) 1.08
The pathophysiology of retinopathy of prematurity: an update of previous and recent knowledge. Acta Ophthalmol (2013) 1.05
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology (2013) 1.05
Phenobarbital for neonatal seizures in hypoxic ischemic encephalopathy: a pharmacokinetic study during whole body hypothermia. Epilepsia (2011) 1.03
Role of the adrenergic system in a mouse model of oxygen-induced retinopathy: antiangiogenic effects of beta-adrenoreceptor blockade. Invest Ophthalmol Vis Sci (2011) 1.01
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol (2007) 1.01
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain (2013) 1.00
New developments in the treatment of hyperammonemia: emerging use of carglumic acid. Int J Gen Med (2011) 1.00
Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1. Neurobiol Dis (2011) 0.99
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia (2013) 0.99
Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants. Ital J Pediatr (2014) 0.99
No major role for the EMX2 gene in schizencephaly. Am J Med Genet A (2008) 0.99
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia (2006) 0.98
Diffuse malformations of cortical development. Handb Clin Neurol (2013) 0.98
Oral propranolol for retinopathy of prematurity: risks, safety concerns, and perspectives. J Pediatr (2013) 0.97
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta (2011) 0.97
Periventricular nodular heterotopia with overlying polymicrogyria. Brain (2005) 0.97
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology (2009) 0.97
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. Epilepsia (2005) 0.97
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. Eur J Hum Genet (2008) 0.96
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia (2004) 0.96
A TRPA1 antagonist reverts oxaliplatin-induced neuropathic pain. Sci Rep (2013) 0.95
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. Eur J Hum Genet (2008) 0.95
Are patients with potential celiac disease really potential? The answer of metabonomics. J Proteome Res (2010) 0.95
Topiramate concentrations in neonates treated with prolonged whole body hypothermia for hypoxic ischemic encephalopathy. Epilepsia (2009) 0.95
New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis (2013) 0.95