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Characterization of a recurrent 15q24 microdeletion syndrome.
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High-resolution analysis showed that in three patients bothExpand
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Iron deficiency anaemia and febrile convulsions: case-control study in children under 2 years
Febrile convulsions are the most common type of seizure and occur in 2-4% of all children.1 A family history of convulsions; maternal smoking; and alcohol consumption during pregnancy have beenExpand
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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
Mental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of 6q terminal deletions. We have ascertained five patients with 6q subtelomere deletions (four de novo, one asExpand
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Levetiracetam for cerebellar tremor in multiple sclerosis: an open-label pilot tolerability and efficacy study.
PURPOSE Disabling tremor is frequent in multiple sclerosis (MS) and its treatment remains challenging. We conducted an open-label trial to evaluate the effect of levetiracetam (LEV) to treatExpand
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Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies
IntroductionActivation of the mTOR pathway has been linked to the cytopathology and epileptogenicity of malformations, specifically Focal Cortical Dysplasia (FCD) and Tuberous Sclerosis (TSC).Expand
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Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
OBJECTIVE To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. DESIGN Prospective cohort study. SETTINGExpand
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Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia
Summary. We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD)Expand
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. FourExpand
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Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
Objective To characterize, among European and Han Chinese populations, the genetic predictors of maculopapular exanthema (MPE), a cutaneous adverse drug reaction common to antiepileptic drugs.Expand
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Double‐stranded DNA can be translocated across a planar membrane containing purified mitochondrial porin
The transport of genetic material across biomembranes is a process of great relevance for several fields of study. However, much remains to be learned about the mechanisms underlying transport, oneExpand
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