Published in Clin Neurophysiol on July 02, 2013
Pediatric Herpes Simplex Virus Encephalitis Complicated by N-Methyl-D-aspartate Receptor Antibody Encephalitis. J Pediatric Infect Dis Soc (2014) 0.82
Clinical analysis on anti-N-methyl-D-aspartate receptor encephalitis cases: Chinese experience. Int J Clin Exp Med (2015) 0.79
Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis? Epilepsy Behav Case Rep (2017) 0.75
Clinical Features of NMDAR Ab-mediated Encephalitis. Pediatr Neurol Briefs (2015) 0.75
Atypical presentation of anti-N-methyl-D-aspartate receptor encephalitis: two case reports. J Med Case Rep (2017) 0.75
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Stereotactic biopsy of diffuse pontine lesions in children. J Neurosurg (2007) 3.66
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
Angiocentric neuroepithelial tumor (ANET): a new epilepsy-related clinicopathological entity with distinctive MRI. Brain Pathol (2005) 2.46
Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis (2012) 2.46
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Delineation of the motor disorder of Lesch-Nyhan disease. Brain (2006) 2.30
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Low blood concentration of hydroxychloroquine is a marker for and predictor of disease exacerbations in patients with systemic lupus erythematosus. Arthritis Rheum (2006) 2.22
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data. Epilepsia (2007) 2.13
Abnormal cortical voice processing in autism. Nat Neurosci (2004) 2.11
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol (2007) 2.06
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03
Critical role of IL-21 in modulating TH17 and regulatory T cells in Behçet disease. J Allergy Clin Immunol (2011) 1.94
Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients. Blood (2011) 1.93
Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants: clinical screening in a large prospective cohort. AIDS (2003) 1.88
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet (2008) 1.86
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet (2011) 1.84
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
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum (2010) 1.75
Autism, the superior temporal sulcus and social perception. Trends Neurosci (2006) 1.73
Rituximab plus Peg-interferon-alpha/ribavirin compared with Peg-interferon-alpha/ribavirin in hepatitis C-related mixed cryoglobulinemia. Blood (2010) 1.64
Phenotype and function of natural killer cells in systemic lupus erythematosus: excess interferon-γ production in patients with active disease. Arthritis Rheum (2011) 1.59
Key clinical features to identify girls with CDKL5 mutations. Brain (2008) 1.59
Human FoxP3+ regulatory T cells in systemic autoimmune diseases. Autoimmun Rev (2011) 1.59
A conserved switch in sensory processing prepares developing neocortex for vision. Neuron (2010) 1.55
Rituximab may form a complex with IgMkappa mixed cryoglobulin and induce severe systemic reactions in patients with hepatitis C virus-induced vasculitis. Arthritis Rheum (2009) 1.55
Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54
Is refractory epilepsy preventable? Epilepsia (2002) 1.52
Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. Blood (2013) 1.51
Multiple bur hole surgery for the treatment of moyamoya disease in children. J Neurosurg (2006) 1.50
Brain magnetic resonance imaging pattern and outcome in children with haemolytic-uraemic syndrome and neurological impairment treated with eculizumab. Dev Med Child Neurol (2013) 1.48
The ketogenic diet improves recently worsened focal epilepsy. Dev Med Child Neurol (2008) 1.48
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 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
Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica (2012) 1.45
Epilepsy as a consequence of cerebral malaria in area in which malaria is endemic in Mali, West Africa. Epilepsia (2006) 1.45
Low titers of serum antibodies inhibiting hemagglutination predict fatal fulminant influenza A(H1N1) 2009 infection. Am J Respir Crit Care Med (2014) 1.45
Frequent joining of Bcl-2 to a JH6 gene in hepatitis C virus-associated t(14;18). J Immunol (2004) 1.45
Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood? Epilepsia (2006) 1.43
The usefulness of capsulated 13C-urea breath test in diagnosis of Helicobacter pylori infection in patients with upper gastrointestinal bleeding. J Clin Gastroenterol (2003) 1.43
Weight gain after childhood traumatic brain injury: a matter of concern. Dev Med Child Neurol (2012) 1.42
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
Cerebral haemorrhagic risk in children with sickle-cell disease. Dev Med Child Neurol (2014) 1.40
Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children. Dev Med Child Neurol (2013) 1.40
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin. Medicine (Baltimore) (2014) 1.39
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus? Dev Med Child Neurol (2008) 1.39
Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. 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
Interleukin-21 modulates Th1 and Th17 responses in giant cell arteritis. Arthritis Rheum (2011) 1.38
Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay. Clin Dysmorphol (2009) 1.38
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.38
Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathy. Arthritis Rheum (2011) 1.36
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology (2012) 1.35
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES). Epilepsia (2010) 1.34
Rapid cortical oscillations and early motor activity in premature human neonate. Cereb Cortex (2006) 1.31
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain (2010) 1.30
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. Pediatrics (2008) 1.29
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. J Nucl Med (2005) 1.26
Acute encephalopathy with inflammation-mediated status epilepticus. Lancet Neurol (2011) 1.24
Fever, genes, and epilepsy. Lancet Neurol (2004) 1.24
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia (2009) 1.23
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat (2011) 1.22
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22