Aim: To compare the effectiveness of radiological skeletal survey and bone scintigraphy for
the detection of bony injuries in cases of suspected child abuse. Methods: All cases with a …

We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal
cortical dysplasia (FCD) IIa. Linkage analysis and whole‐exome sequencing identified a …

X-linked diseases typically exhibit more severe phenotypes in males than females. In contrast,
protocadherin 19 (PCDH19) mutations cause epilepsy in heterozygous females but spare …

… Mandelstam… Mandelstam interpreted brain imaging and read/contributed to the
manuscript. Dr. Dibbens performed molecular analysis and read/contributed to the manuscript. …

This review addresses the complex and often controversial anatomy of the anterior bundle
of the OR, also known as the Meyer loop. Before the advent of MR imaging, 2 main types of …

… Mandelstam report no disclosures relevant to the manuscript. W. Maixner receives
royalties from Springer-Verlag for the books Pediatric Hydrocephalus and Spina Bifida. …

… SA Mandelstam: revise manuscript, data analysis. D. Craiu: revise manuscript, acquisition
of data. … Mandelstam, and D. Craiu report no disclosures relevant to the manuscript. S. …

Brain malformations involving the corpus callosum are common in children with developmental
disabilities. We identified DCC mutations in four families and five sporadic individuals …

Objective: To delineate the specific speech deficits in individuals with epilepsy-aphasia
syndromes associated with mutations in the glutamate receptor subunit gene GRIN2A. Methods: …

Objective To comprehensively describe the new syndrome of myoclonus epilepsy and
ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological …