about
The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsFamilial cortical dysplasia type IIA caused by a germline mutation in DEPDC5SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresEpileptic spasms are a feature of DEPDC5 mTORopathy.Sonography of the pediatric gastrointestinal system.MRI of optic disc edema in childhood idiopathic intracranial hypertension.Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis.Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.Anterior temporal changes on MR images of children with hippocampal sclerosis: an effect of seizures on the immature brain?Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.Gliomatosis cerebri in a patient with Ollier disease.Acute gastric dilatation.Acute tinnitus and hearing loss as the initial symptom of multiple sclerosis in a child.Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.Medial temporal lobe dysgenesis in hypochondroplasia.Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood strokeMosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assayMenkes disease: a rare cause of bilateral inguinal hernias.Aortic duplication artefact in a 14-year-old girlMRI and preoperative embolization of a nasal cavity haemangioma in a child5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further casesAcute spinal cord syndrome secondary to venous congestionA population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancyDorsal language stream anomalies in an inherited speech disorder
P50
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P50
description
researcher
@en
wetenschapper
@nl
name
S Mandelstam
@en
S Mandelstam
@nl
type
label
S Mandelstam
@en
S Mandelstam
@nl
prefLabel
S Mandelstam
@en
S Mandelstam
@nl
P106
P31
P496
0000-0001-6287-0819