User profiles for Simone A. Mandelstam
Simone MandelstamAssociate Professor of Radiology and Paediatrics, University of Melbourne Verified email at rch.org.au Cited by 4538 |
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
…, JI Heng, SA Mandelstam… - Annals of …, 2016 - Wiley Online Library
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 …
cortical dysplasia (FCD) IIa. Linkage analysis and whole‐exome sequencing identified a …
[PDF][PDF] Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy
…, R Kumar, S Mincheva-Tasheva, SA Mandelstam… - Neuron, 2018 - cell.com
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 …
protocadherin 19 (PCDH19) mutations cause epilepsy in heterozygous females but spare …
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
…, K Pope, R Burgess, SA Mandelstam… - Annals of clinical …, 2015 - Wiley Online Library
Whole‐exome sequencing of two brothers with drug‐resistant, early‐onset, focal epilepsy
secondary to extensive type IIA focal cortical dysplasia identified a paternally inherited, …
secondary to extensive type IIA focal cortical dysplasia identified a paternally inherited, …
The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia
Objective: To determine clinical and EEG features that might help identify patients with
epilepsy harboring small, intrinsically epileptogenic, surgically treatable, bottom-of-sulcus …
epilepsy harboring small, intrinsically epileptogenic, surgically treatable, bottom-of-sulcus …
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
Objective: To delineate the phenotype of early childhood epileptic encephalopathy due to de
novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein …
novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein …
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
…, S Heide, B Keren, F Lesne, V Lukic, SA Mandelstam… - Nature …, 2017 - nature.com
Brain malformations involving the corpus callosum are common in children with developmental
disabilities. We identified DCC mutations in four families and five sporadic individuals …
disabilities. We identified DCC mutations in four families and five sporadic individuals …
GRIN2A An aptly named gene for speech dysfunction
SJ Turner, AK Mayes, A Verhoeven, SA Mandelstam… - Neurology, 2015 - AAN Enterprises
Objective: To delineate the specific speech deficits in individuals with epilepsy-aphasia
syndromes associated with mutations in the glutamate receptor subunit gene GRIN2A. Methods: …
syndromes associated with mutations in the glutamate receptor subunit gene GRIN2A. Methods: …
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
…, CJ Milligan, M Muona, SA Mandelstam… - Annals of …, 2017 - Wiley Online Library
Objective To comprehensively describe the new syndrome of myoclonus epilepsy and
ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological …
ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological …
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
…, A Wray, W Maixner, SA Mandelstam… - Annals of clinical …, 2019 - Wiley Online Library
Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic
variants in mTOR pathway genes. How germline variants cause these focal lesions is …
variants in mTOR pathway genes. How germline variants cause these focal lesions is …
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
…, AEL Warren, P Francis, SA Mandelstam… - Brain, 2024 - academic.oup.com
Bottom-of-sulcus dysplasia (BOSD) is increasingly recognized as a cause of drug-resistant,
surgically-remediable, focal epilepsy, often in seemingly MRI-negative patients. We describe …
surgically-remediable, focal epilepsy, often in seemingly MRI-negative patients. We describe …