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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent triggers. Expand
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
It is proposed that aberrant BIN1 localization and defects in triad structure are part of a common pathogenetic mechanism shared between the three forms of centronuclear myopathies. Expand
Metoclopramide induced dystonia in children: two case reports.
Two cases are reported, one of which was referred to the emergency department as encephalitis and the other as tetany, but which were just acute dystonic reactions caused by metaclopramide, even though the patients had used the drug in the recommended dosages. Expand
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Loss of the Drosophila paralog Parg showed lethality in response to oxidative challenge that was rescued by human ADPRHL2, suggesting functional conservation and Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition. Expand
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
The first clinical description of intrafamilal variability in two first-degree cousins with a novel BIN1 stop mutation is presented, expanding the phenotypic spectrum of BIN 1-related CNM to non skeletal muscle defects. Expand
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype
Four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystroglycan and no mental retardation in a German patient are described. Expand
Effects of epilepsy and valproic acid on oxidant status in children with idiopathic epilepsy
The aim of this study is to evaluate the erythrocyte lipid peroxidation and antioxidant enzyme levels in patients with newly diagnosed idiopathic epilepsy before treatment and in patients treatedExpand
Mycoplasma pneumoniae: nervous system complications in childhood and review of the literature
Five patients with different nervous system complications associated with M. pneumoniae infection are described and the pathological features of central nervous system involvement are discussed. Expand
The relation of serum ghrelin, leptin and insulin levels to the growth patterns and feeding characteristics in breast-fed versus formula-fed infants.
Higher serum ghrelin in BF babies might have played a role in their faster growth rate during the first three months of age, while lower energy intake from supplemental foods in correlation with higher serum leptin inBF babies may explain why these babies show marked decline in growth rate after three months. Expand
Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature.
DWI combined with MRS are complementary methods to routine cranial MRI for evaluating neurometabolic diseases which can give detailed information about neurochemistry of affected brain areas. Expand