Search filters

List of works by Tally Lerman-Sagie

A benign congenital myopathy in an inbred Samaritan family

scientific article published on 01 July 2006

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

scientific article

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

scientific article

A new autosomal recessive syndrome with Zellweger-like manifestations.

scientific article

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

scientific article published on 25 March 2011

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features

scientific article published on 5 April 2014

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms

scientific article published in May 2007

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome

scientific article published on 10 February 2012

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation

scientific article

A prospective, multicenter, open-label assessment of atomoxetine in non-North American children and adolescents with ADHD.

scientific article published on August 2004

Abnormal sulcation as an early sign for migration disorders.

scientific article

Acute intermittent porphyria, Rasmussen encephalitis, or both?

scientific article

Adding video recording increases the diagnostic yield of routine electroencephalograms in children with frequent paroxysmal events

scientific article published in May 2005

Adverse reactions of Topiramate and Lamotrigine in children

scientific article

Agenesis of the septum pellucidum: Prenatal diagnosis and outcome

scientific article published on 10 February 2020

Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders

scientific article

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep

scientific article published on 9 July 2015

Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7.

scientific article published on 12 July 2011

Autoimmune epilepsy: distinct subpopulations of epilepsy patients harbor serum autoantibodies to either glutamate/AMPA receptor GluR3, glutamate/NMDA receptor subunit NR2A or double-stranded DNA.

scientific article published in June 2005

Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomy

scientific article published on September 2004

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features

scientific article published on 04 March 2020

Behavioral phenotypes of genetic syndromes: a reference guide for psychiatrists

scientific article

Benign childhood epilepsy with centrotemporal spikes: clinical characteristics and identification of patients at risk for multiple seizures

scientific article published in January 2002

Brain white matter abnormalities associated with copy number variants

scientific article published on 17 October 2019

Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research

scientific article published on 27 September 2019

Carbamazepine versus sulthiame in treating benign childhood epilepsy with centrotemporal spikes

scientific article published in December 2002

Carnitine deficiency in inborn errors of metabolism

scientific article published on November 16, 1997

Clinical and radiologic correlates of frontal intermittent rhythmic delta activity

scientific article published on December 2002

Clinical correlates of frontal intermittent rhythmic delta activity in children

scientific article

Clinical correlates of occipital intermittent rhythmic delta activity (OIRDA) in children

scientific article published on February 2007

Clinical experience with open-label topiramate use in infants younger than 2 years of age.

scientific article

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

scientific article published on 9 August 2013

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation

scientific article published on 21 January 2010

Congenital cytomegalovirus infection presenting as an apparent neurodegenerative disorder

scientific article published on September 2002

Congenital myopathies in Israeli families.

scientific article

Costeff syndrome: clinical features and natural history

scientific article published on 09 September 2014

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy

scientific article published on 13 March 2018

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

scientific article

Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.

scientific article published on June 2003

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

scientific article

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region

scientific article published on 14 May 2012

Developmental coordination disorder in children with attention-deficit-hyperactivity disorder and physical therapy intervention

scientific article published in December 2007

Developmental outcome of children with enlargement of the cisterna magna identified in utero

scientific article

Developmental outcome of fetal macrocephaly and associated syndromes

scientific article published in January 2010

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

scientific article published on 8 April 2014

Diagnostic approach to fetal microcephaly

scientific article published on 30 June 2018

Diagnostic yield of electroencephalograms in infants and young children with frequent paroxysmal eye movements

scientific article published on 15 February 2008

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

scientific article published on 9 March 2009

Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection?

scientific article published on 17 January 2011

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero

scientific article published on 12 January 2012

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt

scientific article

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

scientific article published on 2 June 2014

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study

scientific article

Epilepsy and mental retardation limited to females: an under-recognized disorder

scientific article (publication date: 26 February 2008)

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

scientific article published on 27 September 2018

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

scientific article published on 01 July 2018

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

scientific article published on 14 February 2014

Familial Brain Periventricular Pseudocysts

scientific article published on 7 October 2016

Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum

scientific article published on 02 May 2019

Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome

scientific article published on 01 July 2004

Familial leukoencephalopathy with slowly progressive dystonia and ataxia

scientific article published on 13 December 2008

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

scientific article published on 15 May 2015

Familial optic atrophy with white matter changes

scientific article published in September 2003

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother

scientific article published on 8 December 2010

Fat intolerance in developmentally impaired children with severe feeding intolerance

scientific article published in February 2006

Fatal outcome following foetal cerebellar haemorrhage associated with placental thrombosis

scientific article

Fetal Central Nervous System: MR Imaging versus Dedicated US—Need for Prospective, Blind, Comparative Studies [letter]

Fetal Neurology

scientific article published on 01 November 2018

Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings.

scientific article published in January 2003

Fetal optic nerve sheath measurement as a non‐invasive tool for assessment of increased intracranial pressure ⬇️

scientific article published on November 11, 2011

Fetal pericallosal lipomas - Clues to diagnosis in the second trimester

scientific article published on 02 August 2018

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum

scientific article published on 18 January 2017

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

scientific article

Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population

scientific article published on 23 November 2011

Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies ⬇️

scientific article published on October 31, 1997

Glycogen storage disease type III in Israel: presentation and long-term outcome

scientific article published on March 2014

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

scientific article published on 13 April 2010

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

scientific article published on 19 September 2013

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

scientific article

Imaging of fetal cytomegalovirus infection

scientific article

Immunoglobulin Treatment for Severe Childhood Epilepsy ⬇️

scientific article published on June 1, 2012

Inborn errors of metabolism: a cause of abnormal brain development

scientific article

Infant botulism in Israel: knowledge enables prompt diagnosis

scientific article published on 01 April 2004

Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene

scientific article published on 02 November 2019

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

scientific article published on 30 July 2007

Is fetal magnetic resonance imaging superior to neurosonography for detection of brain anomalies?

scientific article published in October 2002

Israeli children with autism spectrum disorder are not macrocephalic

scientific article published on 4 April 2011

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence

scientific article published on 31 December 2010

Ketogenic diet as antiepileptic therapy: a description of the clinical experience and the multidisciplinary approach at the metabolic-neurogenetic clinic at the Wolfson Medical Center

scientific article published in March 2004

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

scientific article published on 10 February 2010

Malformations of Cortical Development: From Postnatal to Fetal Imaging

scientific article

Medical Cannabis for Pediatric Moderate to Severe Complex Motor Disorders

scientific article published on 16 May 2018

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

scientific article

Metabolic stroke in a patient with bi-allelic OPA1 mutations

scientific article published on 10 April 2019

Microcephaly diagnosed during pregnancy

scientific article published in January 2010

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene

scientific article published in May 2005

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder

scientific article published on 3 March 2015

Mortality in Dravet syndrome

scientific article published on 26 October 2016

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

scientific article published on 03 November 2011

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach

scientific article published on 25 May 2018

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

scientific article published on 22 January 2016

Muscle glycogen depletion and increased oxidative phosphorylation following status epilepticus

scientific article published in December 2003

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) ⬇️

article by Peter Bauer et al published 1 February 2012 in Neurogenetics

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy ⬇️

scientific article published on October 8, 2010

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

scientific article published on 11 March 2009

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency

scientific article published in August 2003

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation

scientific article published on 14 December 2011

Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene ⬇️

scientific article published on September 13, 2012

Neurologic involvement in a child with systemic capillary leak syndrome

scientific article published in February 2010

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

scientific article

Neuropsychological outcome of children with asymmetric ventricles or unilateral mild ventriculomegaly identified in utero

scientific article published in May 2007

Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures

scientific article published in February 2006

Normal and abnormal fetal brain development during the third trimester as demonstrated by neurosonography

scientific article

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

scientific article published on 19 February 2019

Opsoclonus myoclonus ataxia syndrome in Israel

scientific article published in January 2010

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

scientific article published on 8 January 2015

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

scientific article published on 18 April 2014

Pediatric refractory partial status epilepticus responsive to topiramate

scientific article published in March 2005

Periventricular pseudocysts of non-infectious origin: prenatal associated findings and prognostic factors

scientific article published on 11 April 2020

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations

scientific article published on 04 December 2018

Prenatal brain disruption in molybdenum cofactor deficiency

scientific article published on 31 January 2011

Prenatal brain imaging in congenital toxoplasmosis ⬇️

scientific article published on June 27, 2011

Prenatal diagnosis of malformations of cortical development by dedicated neurosonography

scientific article published in February 2007

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

scientific article published on 01 January 2003

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

scientific article published on 13 November 2015

Primary disorders of metabolism and disturbed fetal brain development

scientific article published on September 2009

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes

scientific article published on 26 July 2018

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

scientific article

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs

scientific article

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

scientific article published on 2 March 2016

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population

scientific article published on 17 January 2007

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

scientific article

Rare copy number variants are an important cause of epileptic encephalopathies

scientific article published on December 2011

Rectal diazepam for treatment and prevention of seizures in children

scientific article published on January 15, 1998

Recurrent absence status epilepticus (spike-and-wave stupor) associated with lamotrigine therapy.

scientific article

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia

scientific article published on 05 June 2019

Reply to: The many faces of TUBB4A mutations

scientific article published on 01 May 2014

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

scientific article published on 12 October 2012

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

scientific article

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation

scientific article published on 15 June 2017

Severe refractory status epilepticus owing to presumed encephalitis

scientific article published on March 2005

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

scientific article

Should autistic children be evaluated for mitochondrial disorders?

scientific article published in May 2004

Significance of microcephaly among children with developmental disabilities

scientific article published on February 2002

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

article

Sulthiame in childhood epilepsy

scientific article published on 01 October 2004

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

scientific article published on 10 May 2013

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

scientific article

Technetium 99m ethylcysteinate dimer single-photon emission computed tomography (SPECT) during intellectual stress test in children and adolescents with pure versus comorbid attention-deficit hyperactivity disorder (ADHD).

scientific article published in February 2004

The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis

scientific article published on 7 April 2016

The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome

scientific article published on 01 September 2018

The fetal cerebellum. Pitfalls in diagnosis and management

scientific article

The fetal corpus callosum. 'The truth is out there'.

scientific article published in August 2007

The fetal vermis, pons and brainstem: normal longitudinal development as shown by dedicated neurosonography

scientific article published on 13 January 2013

The importance of prenatal neuroimaging in prediction of developmental outcome of fetuses infected with cytomegalovirus

scientific article published in January 2010

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

scientific article published on 26 September 2016

The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome

scientific article published on 5 February 2015

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

scientific article

The use of fetal neurosonography and brain MRI in cases of cytomegalovirus infection during pregnancy: A retrospective analysis with outcome correlation

scientific article published on 8 November 2017

Transient ‘primary’ carnitine deficiency ⬇️

scientific article published on 01 June 1998

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter

scientific article published on 07 June 2018

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter

scientific article published on 04 July 2018

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.

scientific article published on 17 June 2017

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

scientific article published on 29 August 2016

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

scientific article

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

scientific article published on 26 December 2017

White matter involvement in mitochondrial diseases

scientific article

Why can seizures remain intractable? Clinical vignettes from the life experience of a pediatric epileptologist

scientific article published on 01 January 2011

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

[Enlargement of the fetal posterior fossa--what is the significance?]

scientific article published on 01 November 2008

[Mitochondrial diseases: molecular genetics and clinical applications]

scientific article published on 01 February 2000

“Virtual patch clamp analysis” for predicting the functional significance of pathogenic variants in sodium channels

scientific article published in 2022

Paulina is supported by:

About Paulina

Help