Publications by authors named "Esther Leshinsky-Silver"

74Publications

Familial Brain Periventricular Pseudocysts.

Fetal Diagn Ther 2017 7;42(1):42-47. Epub 2016 Oct 7.

Fetal Neurology Clinic, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1159/000448951DOI Listing
May 2018

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

Eur J Paediatr Neurol 2016 May 2;20(3):412-7. Epub 2016 Mar 2.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.02.012DOI Listing
May 2016

Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene.

J Clin Neurosci 2016 Apr 23;26:84-8. Epub 2015 Dec 23.

Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.jocn.2015.05.071DOI Listing
April 2016

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

Eur J Paediatr Neurol 2015 Nov 9;19(6):733-6. Epub 2015 Jul 9.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.06.006DOI Listing
November 2015

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

Eur J Paediatr Neurol 2015 Jul 3;19(4):472-6. Epub 2015 Mar 3.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Toldot Genetics Ltd., Tel Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.02.005DOI Listing
July 2015

Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.

J Neurol Sci 2015 Apr 6;351(1-2):120-123. Epub 2015 Mar 6.

Department of Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X150013
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http://dx.doi.org/10.1016/j.jns.2015.03.001DOI Listing
April 2015

A novel STAT3 mutation in a patient with hyper-immunoglobulin E syndrome.

Isr Med Assoc J 2015 Jan;17(1):62-3

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January 2015

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

J Genet Genomics 2015 Feb 10;42(2):79-81. Epub 2015 Jan 10.

Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2014.12.004DOI Listing
February 2015

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

Eur J Paediatr Neurol 2015 May 8;19(3):292-7. Epub 2015 Jan 8.

Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2014.12.018DOI Listing
May 2015

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

J Child Neurol 2015 Mar 22;30(4):490-5. Epub 2014 Sep 22.

Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.

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http://dx.doi.org/10.1177/0883073814549241DOI Listing
March 2015

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Epilepsia 2014 Jul 2;55(7):994-1000. Epub 2014 Jun 2.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan; Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1111/epi.12668DOI Listing
July 2014

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

Eur J Paediatr Neurol 2014 Sep 18;18(5):567-71. Epub 2014 Apr 18.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.04.008DOI Listing
September 2014

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

Eur J Paediatr Neurol 2014 Jul 8;18(4):495-501. Epub 2014 Apr 8.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.03.009DOI Listing
July 2014

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

Eur J Med Genet 2014 May-Jun;57(6):288-92. Epub 2014 Apr 5.

Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.03.010DOI Listing
February 2015

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

J Med Genet 2014 May 27;51(5):303-8. Epub 2014 Feb 27.

Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-101823
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http://dx.doi.org/10.1136/jmedgenet-2013-101823DOI Listing
May 2014

Myotonia in DNM2-related centronuclear myopathy.

J Neural Transm (Vienna) 2014 May 24;121(5):549-53. Epub 2013 Dec 24.

Departments of Neurology, Edith Wolfson Medical Center, 58100, Holon, Israel,

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http://dx.doi.org/10.1007/s00702-013-1140-8DOI Listing
May 2014

Resolution of epileptic encephalopathy following treatment with transdermal nicotine.

Epilepsia 2013 Jan 12;54(1):e13-5. Epub 2012 Oct 12.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1111/j.1528-1167.2012.03715.xDOI Listing
January 2013

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

Acta Neuropathol 2012 Oct 3;124(4):575-81. Epub 2012 Jul 3.

Department of Translational Medecine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-012-1007-3DOI Listing
October 2012

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

Am J Med Genet A 2012 Jun 14;158A(6):1395-9. Epub 2012 May 14.

Institute of Medical Genetics, Wolfson Medical Center, Holon, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.35361DOI Listing
June 2012

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

J Neurol Sci 2012 May 10;316(1-2):112-5. Epub 2012 Feb 10.

Molecular Genetic Laboratory, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.jns.2012.01.012DOI Listing
May 2012

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

Neurogenetics 2012 Feb;13(1):73-6

Department of Medical Genetics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10048-012-0314-0DOI Listing
February 2012

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

Eur J Paediatr Neurol 2012 Jul 14;16(4):356-60. Epub 2011 Dec 14.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2011.11.004DOI Listing
July 2012

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

J Genet Couns 2012 Aug 23;21(4):557-63. Epub 2011 Nov 23.

Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1007/s10897-011-9422-5DOI Listing
August 2012

Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.

Isr Med Assoc J 2011 Oct;13(10):632-4

Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

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October 2011

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

Am J Med Genet A 2011 Dec 3;155A(12):2991-6. Epub 2011 Nov 3.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1002/ajmg.a.34316DOI Listing
December 2011

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

Clin Immunol 2011 Sep 7;140(3):284-90. Epub 2011 May 7.

Pediatric Infectious/Allergy/Inmunology Unit, E. Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.clim.2011.04.011DOI Listing
September 2011

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

J Neurol Sci 2011 Jun 25;305(1-2):67-70. Epub 2011 Mar 25.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel- Aviv University, Israel.

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http://dx.doi.org/10.1016/j.jns.2011.03.011DOI Listing
June 2011

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

Eur J Paediatr Neurol 2011 May 8;15(3):230-3. Epub 2010 Dec 8.

Institute of Medical Genetics, Wolfson Medical Center, 58100 Holon, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2010.11.001DOI Listing
May 2011

Granulomas in Crohn's disease: are newly discovered genetic variants involved?

J Crohns Colitis 2010 Oct 22;4(4):438-43. Epub 2010 Apr 22.

Internal Medicine B, Israel.

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http://dx.doi.org/10.1016/j.crohns.2010.02.006DOI Listing
October 2010

Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.

J Neurol Sci 2011 Feb 20;301(1-2):90-2. Epub 2010 Nov 20.

Department of Neurology, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.jns.2010.10.006DOI Listing
February 2011

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.

J Neurol Sci 2010 Sep 22;296(1-2):101-3. Epub 2010 Jul 22.

Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.jns.2010.06.029DOI Listing
September 2010

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

Eur J Paediatr Neurol 2010 Sep 13;14(5):456-9. Epub 2010 Apr 13.

Pediatric Neurology Unit, Wolfson Medical Center, Holon 58100, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2010.03.002DOI Listing
September 2010

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

Mol Genet Metab 2010 May 10;100(1):65-70. Epub 2010 Feb 10.

Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.002DOI Listing
May 2010

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

J Child Neurol 2010 Jul 21;25(7):892-7. Epub 2010 Jan 21.

Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel- Aviv University, Holon, Israel.

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http://dx.doi.org/10.1177/0883073809351316DOI Listing
July 2010

Early-onset Crohn disease is associated with male sex and a polymorphism in the IL-6 promoter.

J Pediatr Gastroenterol Nutr 2010 Jan;50(1):22-6

Pediatric Gastroenterology Unit, Wolfson Medical Center, Holon Sackler School of Medicine, Tel Aviv University, Israel.

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http://dx.doi.org/10.1097/MPG.0b013e3181b7a6a4DOI Listing
January 2010

Disease behavior in children with Crohn's disease: the effect of disease duration, ethnicity, genotype, and phenotype.

Dig Dis Sci 2009 Jan 2;54(1):142-50. Epub 2008 Jul 2.

Pediatric Day Care Unit, Department of Pediatrics, Bnai Zion Medical Center, 47 Golomb St., POB 4940, Haifa, 31048, Israel.

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http://dx.doi.org/10.1007/s10620-008-0326-7DOI Listing
January 2009

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.

Mol Genet Metab 2008 Feb 3;93(2):179-89. Epub 2007 Dec 3.

Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.021DOI Listing
February 2008

Pediatric onset Crohn's colitis is characterized by genotype-dependent age-related susceptibility.

Inflamm Bowel Dis 2007 Dec;13(12):1509-15

Pediatric Gastroenterology Unit, Wolfson Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/ibd.20244DOI Listing
December 2007

Risk factors for perianal Crohn's disease: the role of genotype, phenotype, and ethnicity.

Am J Gastroenterol 2007 Aug 17;102(8):1702-8. Epub 2007 May 17.

Departments of Medicine and Gastroenterology, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1111/j.1572-0241.2007.01277.xDOI Listing
August 2007

Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene.

Horm Res 2006 29;66(2):73-8. Epub 2006 May 29.

Molecular Genetics Laboratory, E. Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1159/000093583DOI Listing
September 2006

Candidate gene polymorphism in cardiovascular disease: the BIP cohort.

Isr Med Assoc J 2006 Feb;8(2):103-5

Molecular Genetics Laboratory, Alameda, California, USA.

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February 2006

White matter involvement in mitochondrial diseases.

Mol Genet Metab 2005 Feb 10;84(2):127-36. Epub 2004 Dec 10.

The Mitochondrial Disease Clinic, Metabolic-Neurogenetic Service, Wolfson Medical Center, Pediatric Neurology Unit, Holon, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2004.09.008DOI Listing
February 2005

A polymorphism in the TNF-alpha promoter gene is associated with pediatric onset and colonic location of Crohn's disease.

Am J Gastroenterol 2005 Feb;100(2):407-13

Pediatric Gastroenterology Service, E. Wolfson Medical Center, PO Box 5, Holon 58100, Israel.

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http://dx.doi.org/10.1111/j.1572-0241.2005.41126.xDOI Listing
February 2005

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

J Child Neurol 2004 Jul;19(7):522-5

Metabolic-Neuro-Genetic Clinic, Wolfson Medical Center, Holon, Israel 58100.

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http://dx.doi.org/10.1177/08830738040190070801DOI Listing
July 2004

Pediatric Crohn's disease and growth retardation: the role of genotype, phenotype, and disease severity.

Pediatrics 2004 Nov;114(5):1281-6

Pediatric Gastroenterology and Nutrition Unit, E. Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1542/peds.2004-0417DOI Listing
November 2004

Should autistic children be evaluated for mitochondrial disorders?

J Child Neurol 2004 May;19(5):379-81

Mitochondrial Disease Clinic, Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1177/088307380401900510DOI Listing
May 2004

Familial optic atrophy with white matter changes.

Am J Med Genet A 2003 Sep;121A(3):263-5

Institute of Clinical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.20238
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http://dx.doi.org/10.1002/ajmg.a.20238DOI Listing
September 2003

A new autosomal recessive syndrome with Zellweger-like manifestations.

Am J Med Genet A 2003 Jun;119A(3):352-5

Mitochondrial Disease Clinic, Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.20124
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http://dx.doi.org/10.1002/ajmg.a.20124DOI Listing
June 2003

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

Prenat Diagn 2003 Jan;23(1):31-3

Molecular Genetics Lab, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1002/pd.516DOI Listing
January 2003

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.

Eur J Hum Genet 2002 Apr;10(4):226-30

Molecular Genetics laboratory and Institute of Physiologic Hygiene, Wolfson Medical Center, Holon, Israel.

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http://www.nature.com/articles/5200791
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http://dx.doi.org/10.1038/sj.ejhg.5200791DOI Listing
April 2002