| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
|
Bone
|
2007
|
1.24
|
|
2
|
DEPDC5 mutations in genetic focal epilepsies of childhood.
|
Ann Neurol
|
2014
|
1.21
|
|
3
|
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
|
Am J Hum Genet
|
2012
|
1.21
|
|
4
|
Neural correlates of the number-size interference task in children.
|
Neuroreport
|
2006
|
1.10
|
|
5
|
Long-term prognosis for childhood and juvenile absence epilepsy.
|
J Neurol
|
2004
|
1.10
|
|
6
|
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
Neurology
|
2013
|
1.05
|
|
7
|
Effectiveness and tolerability of rufinamide in children and adults with refractory epilepsy: first European experience.
|
Epilepsy Behav
|
2009
|
0.96
|
|
8
|
First European long-term experience with the orphan drug rufinamide in childhood-onset refractory epilepsy.
|
Epilepsy Behav
|
2010
|
0.92
|
|
9
|
Amino acid cerebrospinal fluid/plasma ratios in children: influence of age, gender, and antiepileptic medication.
|
Pediatrics
|
2008
|
0.91
|
|
10
|
A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome.
|
Epilepsia
|
2011
|
0.90
|
|
11
|
Predictive validity of attentional functions in differentiating children with and without ADHD: a componential analysis.
|
Dev Med Child Neurol
|
2010
|
0.89
|
|
12
|
Brain-type natriuretic peptide secretion following febrile and afebrile seizures - a new marker in childhood epilepsy?
|
Epilepsia
|
2007
|
0.87
|
|
13
|
Bromide in patients with SCN1A-mutations manifesting as Dravet syndrome.
|
Neuropediatrics
|
2012
|
0.86
|
|
14
|
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.
|
Brain
|
2007
|
0.85
|
|
15
|
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
|
Eur J Hum Genet
|
2013
|
0.85
|
|
16
|
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
|
Amino Acids
|
2009
|
0.85
|
|
17
|
Chronic antiepileptic monotherapy, bone metabolism, and body composition in non-institutionalized children.
|
Dev Med Child Neurol
|
2009
|
0.84
|
|
18
|
Complete removal of vagus nerve stimulator generator and electrodes.
|
J Neurosurg Pediatr
|
2010
|
0.84
|
|
19
|
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
|
Hum Genet
|
2013
|
0.83
|
|
20
|
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
|
Epilepsia
|
2014
|
0.82
|
|
21
|
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
|
Ann Hum Genet
|
2012
|
0.79
|
|
22
|
Brain-type natriuretic peptide release and seizure activity during vagal nerve stimulation.
|
Epilepsia
|
2007
|
0.78
|
|
23
|
Effects of levetiracetam and valproic acid monotherapy on sex-steroid hormones in prepubertal children--results from a pilot study.
|
Epilepsy Res
|
2009
|
0.77
|
|
24
|
Cerebrospinal fluid and serum NT-proBNP concentrations in children with epilepsy.
|
Epilepsy Res
|
2009
|
0.77
|
|
25
|
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
Eur J Med Genet
|
2007
|
0.76
|
|
26
|
Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.
|
Am J Med Genet A
|
2005
|
0.76
|
|
27
|
Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
|
J Pediatr
|
2013
|
0.76
|
|
28
|
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.
|
Am J Med Genet A
|
2012
|
0.76
|
|
29
|
Brief report: CANTAB performance and brain structure in pediatric patients with Asperger syndrome.
|
J Autism Dev Disord
|
2013
|
0.76
|
|
30
|
Midbrain-hindbrain malformations in patients with malformations of cortical development and epilepsy: a series of 220 patients.
|
Epilepsy Res
|
2013
|
0.75
|
|
31
|
N-terminal pro-brain natriuretic peptide (NT-proBNP) release in children with vagus nerve stimulation. A prospective case series.
|
J Neurol
|
2008
|
0.75
|
|
32
|
Tick-borne encephalitis in a child with previous history of completed primary vaccination.
|
Pediatr Int
|
2015
|
0.75
|
|
33
|
Adiponectin and visfatin concentrations in children treated with valproic acid.
|
Epilepsia
|
2007
|
0.75
|
|
34
|
Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol.
|
Neuropediatrics
|
2012
|
0.75
|