PubRank

Ingrid E Scheffer

Author PubWeight™ 238.56‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 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
2 De novo mutations in epileptic encephalopathies. Nature 2013 7.42
3 ILAE official report: a practical clinical definition of epilepsy. Epilepsia 2014 7.12
4 Factors influencing clinical features of absence seizures. Epilepsia 2008 4.32
5 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012 4.12
6 New concepts in classification of the epilepsies: entering the 21st century. Epilepsia 2011 3.99
7 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013 3.64
8 Somatic mutations in cerebral cortical malformations. N Engl J Med 2014 3.13
9 Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 2012 2.98
10 De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol 2006 2.93
11 Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol 2007 2.88
12 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002 2.86
13 Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002 2.43
14 Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 2008 2.39
15 SCN1A mutations and epilepsy. Hum Mutat 2005 2.34
16 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 2012 2.34
17 SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006 2.34
18 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
19 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology 2014 2.30
20 The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007 2.30
21 SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol 2013 2.28
22 Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism? AJNR Am J Neuroradiol 2002 2.26
23 Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 2010 2.23
24 Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 2009 2.12
25 The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015 2.12
26 Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 2013 2.10
27 Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol 2007 2.00
28 Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain 2013 1.95
29 X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 2008 1.95
30 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009 1.94
31 PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012 1.91
32 Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 2011 1.88
33 GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 2013 1.85
34 The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol 2012 1.80
35 The genetics of Dravet syndrome. Epilepsia 2011 1.77
36 Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol 2006 1.73
37 Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 2013 1.72
38 Is benign rolandic epilepsy genetically determined? Ann Neurol 2004 1.68
39 GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 2004 1.65
40 Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain 2010 1.61
41 Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 2002 1.56
42 Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia 2010 1.51
43 Channelopathies in idiopathic epilepsy. Neurotherapeutics 2007 1.49
44 Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology 2012 1.48
45 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
46 Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. Dev Med Child Neurol 2013 1.44
47 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 2014 1.40
48 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 2004 1.40
49 SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia 2007 1.40
50 Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain 2002 1.37
51 Channelopathies as a genetic cause of epilepsy. Curr Opin Neurol 2003 1.32
52 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 2009 1.30
53 Timing of de novo mutagenesis--a twin study of sodium-channel mutations. N Engl J Med 2010 1.28
54 Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 2011 1.26
55 SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009 1.23
56 Recent advances in the molecular genetics of epilepsy. J Med Genet 2013 1.21
57 Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain 2013 1.19
58 Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS. Epilepsia 2009 1.18
59 Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain 2010 1.18
60 Susceptibility genes for complex epilepsy. Hum Mol Genet 2005 1.17
61 Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia 2012 1.17
62 Febrile seizures. BMJ 2007 1.15
63 KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol 2014 1.15
64 Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann Neurol 2004 1.14
65 Occipital epilepsies: identification of specific and newly recognized syndromes. Brain 2003 1.13
66 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol 2011 1.11
67 SCN1A testing for epilepsy: application in clinical practice. Epilepsia 2013 1.10
68 Does variation in NIPA2 contribute to genetic generalized epilepsy? Hum Genet 2014 1.10
69 Thalamic atrophy in childhood absence epilepsy. Epilepsia 2006 1.09
70 Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol 2012 1.08
71 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
72 Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia 2006 1.07
73 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
74 Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy. Ann Neurol 2013 1.07
75 Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain 2003 1.07
76 Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. Epilepsia 2008 1.05
77 Human epilepsies: interaction of genetic and acquired factors. Trends Neurosci 2006 1.04
78 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol 2012 1.02
79 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. Eur J Hum Genet 2012 1.02
80 Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet 2010 1.01
81 A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. Mol Cell Neurosci 2007 1.01
82 Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 2004 1.01
83 Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain 2013 1.00
84 Genetic dissection of the common epilepsies. Curr Opin Neurol 2006 0.99
85 Clinical genetic study of the epilepsy-aphasia spectrum. Epilepsia 2013 0.99
86 Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. Ann Neurol 2010 0.98
87 Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia 2004 0.98
88 Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS). Neuroimage 2010 0.98
89 A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy. Epilepsia 2007 0.98
90 Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002 0.97
91 Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain 2010 0.96
92 Vaccination, seizures and 'vaccine damage'. Curr Opin Neurol 2007 0.96
93 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet 2009 0.96
94 Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia 2012 0.96
95 Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia 2013 0.95
96 Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse. Arch Neurol 2009 0.95
97 Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. Am J Med Genet A 2013 0.95
98 Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Epilepsia 2012 0.94
99 Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy? Epilepsia 2009 0.94
100 Autoantibodies and epilepsy. Epilepsia 2011 0.93
101 Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration. Epilepsia 2006 0.93
102 Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility. Epilepsia 2014 0.93
103 Efficacy of the ketogenic diet: which epilepsies respond? Epilepsia 2012 0.93
104 Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia 2013 0.92
105 Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain Dev 2004 0.92
106 Reflex seizures in patients with malformations of cortical development and refractory epilepsy. Epilepsia 2005 0.92
107 Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. Epilepsia 2012 0.91
108 EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state. Epilepsia 2009 0.91
109 Genetics of febrile seizure subtypes and syndromes: a twin study. Epilepsy Res 2013 0.91
110 Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3. Epilepsia 2010 0.91
111 Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+. Neurology 2011 0.90
112 Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. Epilepsy Res 2007 0.90
113 Severe infantile epilepsies: molecular genetics challenge clinical classification. Brain 2003 0.88
114 Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia 2012 0.88
115 Mirror neuron system involvement in empathy: a critical look at the evidence. Soc Neurosci 2011 0.87
116 Long-term follow-up of febrile infection-related epilepsy syndrome. Epilepsia 2011 0.86
117 GLUT1 deficiency: a glut of epilepsy phenotypes. Neurology 2012 0.86
118 The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures. Neurol Res Int 2011 0.86
119 Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 2010 0.86
120 Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 2003 0.86
121 Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia 2013 0.86
122 A twin study of genetic influences on epilepsy outcome. Twin Res 2003 0.85
123 A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. Epilepsia 2010 0.85
124 De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. J Med Genet 2009 0.85
125 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology 2016 0.85
126 Epilepsy classification: a cycle of evolution and revolution. Curr Opin Neurol 2013 0.84
127 Is the ketogenic diet effective in specific epilepsy syndromes? Epilepsy Res 2012 0.84
128 In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. Brain 2012 0.84
129 Etiology of hippocampal sclerosis: evidence for a predisposing familial morphologic anomaly. Neurology 2013 0.83
130 Genetics of epilepsy syndromes in families with photosensitivity. Neurology 2013 0.83
131 Electroclinical features of absence seizures in sleep. Epilepsy Res 2011 0.83
132 Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. Arch Neurol 2012 0.83
133 Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy? Epilepsia 2005 0.83
134 Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Am J Med Genet A 2013 0.83
135 Automatisms in absence seizures in children with idiopathic generalized epilepsy. Arch Neurol 2009 0.82
136 Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? Brain 2004 0.82
137 Gene expression analysis in absence epilepsy using a monozygotic twin design. Epilepsia 2008 0.81
138 Febrile seizures. Aust Fam Physician 2005 0.81
139 Detection of microchromosomal aberrations in refractory epilepsy: a pilot study. Epileptic Disord 2010 0.81
140 Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. Epilepsia 2014 0.81
141 Genetics of idiopathic epilepsies. Handb Clin Neurol 2013 0.81
142 Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26. Neurology 2013 0.81
143 A retrospective population-based study on seizures related to childhood vaccination. Epilepsia 2011 0.80
144 Do mutations in SCN1B cause Dravet syndrome? Epilepsy Res 2012 0.80
145 Benign occipital epilepsies of childhood: clinical features and genetics. Brain 2008 0.80
146 Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Behav 2010 0.78
147 Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes. Epilepsia 2011 0.78
148 New genes for focal epilepsies with speech and language disorders. Curr Neurol Neurosci Rep 2015 0.78
149 Early seizures: causal events or predisposition to adult epilepsy? Lancet Neurol 2007 0.78
150 A novel GEFS+ locus on 12p13.33 in a large Roma family. Epilepsy Res 2011 0.78
151 Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? Epilepsia 2009 0.77
152 Head stereotypies in STXBP1 encephalopathy. Dev Med Child Neurol 2013 0.77
153 Family studies of individuals with eyelid myoclonia with absences. Epilepsia 2012 0.77
154 Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone release. J Clin Endocrinol Metab 2007 0.76
155 GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children. Epileptic Disord 2007 0.76
156 Erratum to: New Genes for Focal Epilepsies with Speech and Language Disorders. Curr Neurol Neurosci Rep 2015 0.76
157 Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations. Epilepsy Res 2012 0.76
158 Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations. Epilepsy Res 2013 0.76
159 Epilepsy syndromes in children. Aust Fam Physician 2005 0.76
160 Vaccination Triggers, Rather Than Causes, Seizures. Epilepsy Curr 2015 0.75
161 Invited comments on the Shostak and Ottman review. Epilepsia 2006 0.75
162 Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes? Epilepsia 2007 0.75
163 Epileptiform EEG abnormalities in children with language regression. Neurology 2006 0.75
164 Electroencephalographic abnormalities during sleep in children with developmental speech-language disorders: a case-control study. Dev Med Child Neurol 2009 0.75
165 Rare protein sequence variation in SV2A gene does not affect response to levetiracetam. Epilepsy Res 2012 0.75
166 Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI. Epilepsia 2013 0.75
167 Multifocal epilepsy: the role of palliative resection - intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia. Epileptic Disord 2008 0.75
168 Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures. Arch Neurol 2010 0.75
169 Association studies and functional validation or functional validation alone? Epilepsy Res 2007 0.75