A5004678155- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Mitochondrial Function and Pathology
- Neonatal and fetal brain pathology
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- ATP Synthase and ATPases Research
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Epilepsy research and treatment
- Congenital heart defects research
- Cellular transport and secretion
- Ion channel regulation and function
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Cytomegalovirus and herpesvirus research
- Connective tissue disorders research
- Assisted Reproductive Technology and Twin Pregnancy
- Cerebrospinal fluid and hydrocephalus
- Cleft Lip and Palate Research
- Glycogen Storage Diseases and Myoclonus
- Craniofacial Disorders and Treatments
Tel Aviv University
2016-2025
Wolfson Medical Center
2016-2025
Holon Institute of Technology
2010-2024
Rabin Medical Center
2007-2024
Maccabi Health Care Services
2024
Research Network (United States)
2023
Maccabi Institute for Health Services Research
2022
Fetal Medicine Foundation
2011-2016
Institute of Genetics
2016
Shaare Zedek Medical Center
2015
Abstract The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to rename the megalencephaly‐capillary (MCAP; alternatively malformation‐ polymicrogyria syndrome), and more recently described megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical neuroimaging anomalies. We compare features in 42 patients evaluated for characteristics MCAP MPPH global view these syndromes...
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with increased predisposition to osteosarcoma. Children RTS typically present a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes RecQ DNA helicase, have been reported few patients. We examined whether developing osteosarcoma among international cohort of patients was distinctive pattern mutations gene.We obtained clinical information about...
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikilodermatous rash starting in infancy, small stature, skeletal abnormalities, juvenile cataracts, and predisposition to specific cancers. We have identified contemporary cohort of 41 patients better define the clinical profile, diagnostic criteria, management with RTS. Patients diagnosis RTS were ascertained referrals from dermatology, ophthalmology, genetics, oncology or direct contact...
Identification of genes responsible for medically important traits is a major challenge in human genetics. Due to the genetic heterogeneity hearing loss, targeted DNA capture and massively parallel sequencing are ideal tools address this challenge. Our subjects genome analysis Israeli Jewish Palestinian Arab families with loss that varies mode inheritance severity.A custom 1.46 MB design cRNA oligonucleotides was constructed containing 246 either or mouse deafness. Paired-end libraries were...
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, cleft palate, each occur in significant proportion of affected individuals. We present detailed clinical findings 12 unrelated individuals MFDM; these compose the largest reported cohort to date. To define etiology MFDM, we...
<h3>Objective:</h3> We aimed to investigate the possible association between <i>SCN2A</i> mutations and early-onset epileptic encephalopathies (EOEEs). <h3>Methods:</h3> recruited a total of 328 patients with EOEE, including 67 Ohtahara syndrome (OS) 150 West syndrome. were examined using high resolution melt analysis or whole exome sequencing. <h3>Results:</h3> found 14 novel missense in 15 patients: 9 OS cases (13.4%), 1 (0.67%), 5 111 unclassified EOEEs (4.5%). Twelve confirmed as de...
Epilepsy and Mental Retardation limited to Females (EFMR) which links Xq22 has been reported in only one family. We aimed determine if there was a distinctive phenotype that would enhance recognition of this disorder. ascertained four unrelated families (two Australian, two Israeli) where seizures females were transmitted through carrier males. Detailed clinical assessment performed on 58 individuals, using validated seizure questionnaire, neurological examination review EEG imaging studies....
Abstract Objectives To evaluate whether fetal brain magnetic resonance imaging (MRI) adds useful clinical information to that obtained by dedicated neurosonography using a combined transabdominal and transvaginal approach in fetuses with suspected anomalies. Methods In the 2‐year period between January 2000 2002, 42 underwent neurosonographic MRI examinations of brain. The referral indications were: asymmetric ventriculomegaly (13), (7), periventricular cysts (2), midline findings agenesis...
De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven de heterozygous mutations, which were found our comprehensive genetic analysis (target capture or whole-exome sequencing) for early onset encephalopathies (EOEEs).A total of 163 EOEEs without known genes, including 6 malignant migrating partial seizures infancy (MMPSI), and 60 unclassified EOEEs, analyzed by target (28 samples) sequencing (135 samples).We identified 7 patients:...
Mutations in the MCT8 (SLC16A2) gene, encoding a specific thyroid hormone transporter, cause an X-linked disease with profound psychomotor retardation, neurological impairment, and abnormal serum levels. The nature of central nervous system damage is unknown.The objective study was to define neuropathology syndrome by analyzing brain tissue sections from MCT8-deficient subjects.We analyzed 30th gestational week male fetus 11-year-old boy as controls, 28th female fetuses, respectively,...
Summary Objective We evaluated seizure outcome in a large cohort of familial neonatal seizures ( FNS ), and examined phenotypic overlap with different molecular lesions. Methods Detailed clinical data were collected from 36 families comprising two or more individuals seizures. The course occurrence later life analyzed. Families screened for KCNQ 2 , 3 SCN 2A PRRT mutations, linkage studies performed mutation‐negative to exclude known loci. Results Thirty‐three fulfilled criteria benign...
Objective To determine the cause and course of a novel syndrome with progressive encephalopathy brain atrophy in children. Methods Clinical whole-exome sequencing was performed for global developmental delay intellectual disability; some patients also had spastic paraparesis evidence clinical regression. Six were identified de novo missense mutations kinesin gene KIF1A. The predicted functional disruption these assessed silico to compare calculated conformational flexibility estimated...
To determine the prevalence and characteristics of copy number variations (CNVs) in children with cerebral palsy (CP) unknown etiology, comprising approximately 20% CP population.Fifty-two participants (age 10.5 ± 7.8 years; Gross Motor Function Classification System scale 2.8 1.3) nonprogressive pyramidal and/or extrapyramidal signs since infancy no identified etiology were enrolled. Individuals evidence acquired causes excluded. Participants underwent neurologic clinical genetic...
IFIH1 gain-of-function has been reported as a cause of type I interferonopathy encompassing spectrum autoinflammatory phenotypes including Aicardi–Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through European North American collaboration, we set out to describe the molecular, clinical interferon status cohort individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 from 51 families segregating total 27 likely Ten adult individuals, 13.5% all...
Sotos syndrome (SoS) is an autosomal dominant overgrowth with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed that haploinsufficiency the NSD1 gene major cause SoS, submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) our patients examined. Since first report, additional 70 SoS cases consisting 53 Japanese 17 non-Japanese have been analyzed. 50 microdeletions (45%) 16 point mutations (14%) among...
Objective To identify sonographic landmarks of normal fetal cortical development. Methods Serial ultrasound examinations were performed every 2 weeks from 18 gestation until term. In each session a detailed examination the brain was and appearance main sulci gyri recorded. Results Twenty-two pregnant women volunteered to participate in study. The cortex followed an orderly pattern By time first examination, at weeks, major fissures present. could be demonstrated as early weeks. Main...