Publications by authors named "Zaid Afawi"

46Publications

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.

Epilepsy Behav 2020 02 10;103(Pt A):106839. Epub 2020 Jan 10.

Lafora Epilepsy Cure Initiative (LECI), USA; Laboratory of Neurology, IIS-Jimenez Diaz Foundation, UAM, 28045 Madrid, Spain; Biomedical Research Networking Center on Rare Diseases (CIBERER), 28029 Madrid, Spain.

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http://dx.doi.org/10.1016/j.yebeh.2019.106839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7024738PMC
February 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Neurol Genet 2018 Apr 21;4(2):e223. Epub 2018 Mar 21.

Department of Psychiatry (C.G.B., S.R., F.M.S.d.V., S.A.K.) and Department of Clinical Genetics (C.G.B., M.Q., G.J.B., H.B.B., V.B.), Erasmus MC, Rotterdam, The Netherlands; Sackler School of Medicine (Z.A., A.F.-V.), Tel-Aviv University, Ramat-Aviv; Pediatric Neurology Unit (A.F.-V.), Dana Children's Hospital, Tel-Aviv Medical Center, Israel; Department of Molecular Pharmacology (I.E.K., A.M.D.), Groningen Research Institute of Pharmacy, University of Groningen, The Netherlands; Clalit Health Services (R.M.), Sharon-Shomron, Hadera District; Faculty of Health Science (R.M.), Ben-Gurion University of the Negev, Beer Sheva; Metabolic Disease Unit (H.M.), Meyer Children's Hospital, Rambam Health Care Campus and Technion Faculty of Medicine, Haifa; Nursing Research Unit (M.A.T.), Soroka University Medical Center and Faculty of Health Science, Ben Gurion University of the Negev, Be'er Sheva, Israel; Ecole Pratique des Hautes Etudes (G.S.), PSL Research University, Neurogenetics Laboratory; Institut du Cerveau et de la Moelle Epinière (G.S., A.B.), Sorbonne University, Pierre and Marie Curie University UMR_S1127, INSERM u1127, CNRS UMR5225, Paris, France; Center for Biomics (W.F.J.v.I.), Erasmus MC; Department of Epidemiology (M.W.V.) and Department of Radiology (M.W.V.), Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863690PMC
April 2018

Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.

J Mol Neurosci 2017 Oct 15;63(2):216-222. Epub 2017 Sep 15.

Tel Aviv Medical Center, The Genetic Institute, 6 Weizmann Street, 6423906, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s12031-017-0972-3DOI Listing
October 2017

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Neurology 2017 Sep 25;89(12):1210-1219. Epub 2017 Aug 25.

From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000004384DOI Listing
September 2017

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.

J Neurol 2017 Jul 15;264(7):1421-1425. Epub 2017 Jun 15.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s00415-017-8539-3DOI Listing
July 2017

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

Epilepsy Res 2017 03 4;131:9-14. Epub 2017 Feb 4.

Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.01.012DOI Listing
March 2017

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

Epilepsia 2017 03 18;58(3):e40-e43. Epub 2017 Jan 18.

Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.13666DOI Listing
March 2017

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Epilepsia 2017 02 13;58(2):e26-e30. Epub 2017 Jan 13.

Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.13649DOI Listing
February 2017

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Epilepsia 2016 Apr 27;57(4):549-56. Epub 2016 Jan 27.

Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1111/epi.13318DOI Listing
April 2016

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

Neurology 2016 Feb 22;86(8):713-22. Epub 2016 Jan 22.

From the Sackler School of Medicine (Z.A., I.B., M.Y.N., T.L.-S., A.D.K.), Tel Aviv University, Ramat Aviv, Israel; Epilepsy Research Centre (K.L.O., K.L.H., I.E.S., S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; Epilepsy Unit (S.K., H.G.-S., R.S.), Schneider Children's Medical Center of Israel, Petach Tikvah; Department of Neurology (A.M., M.Y.N.), Tel Aviv Sourasky Medical Center; Department of Neurology (I.B.), The Chaim Sheba Medical Center, Tel Hashomer; Shaare Zedek Medical Center (A.J.M.), Jerusalem; Department of Neurology (S.W.), Western Galilee Hospital, Nahariya; Pediatric Neurology and Child Development Center (M. Mahajnah), Hillel Yaffe Medical Center, Hadera; Ruth and Bruce Rappaport Faculty of Medicine (M. Mahajnah), Technion, Haifa; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon; The Edmond and Lily Safra Children's Hospital (B.B.-Z.), Sheba Medical Center, Ramat Gan; Department of Neurology (E.K.), Barzilai Medical Center, Ashkelon; Faculty of Health Sciences (E.K., R.M., Z.S.), Ben-Gurion University of the Negev, Beer-Sheva; Department of Neurology (R.M.) and Pediatric Neurology Unit (Z.S.), Soroka University Medical Center, Beer-Sheva; Pediatric Neurology Unit (U.K.), Dana Children's Hospital, Tel Aviv; Department of Neurology (D.E.), Agnes Ginges Center of Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; School of Biomedical Sciences (R.H.W.), Charles Sturt University, NSW; Queensland Brain Institute (M. Mangelsdorf), University of Queensland, Brisbane, Australia; Wessex Regional Genetics Laboratory (J.N.M.), Salisbury NHS Foundation Trust, Salisbury, UK; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Florey Institute (G.D.J., I.E.S.), Melbourne; Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute o

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http://dx.doi.org/10.1212/WNL.0000000000002404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763801PMC
February 2016

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

J Neurol 2016 Jan 12;263(1):11-6. Epub 2015 Oct 12.

Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany.

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http://dx.doi.org/10.1007/s00415-015-7921-2DOI Listing
January 2016

D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.

Eur J Hum Genet 2016 May 30;24(5):666-71. Epub 2015 Sep 30.

Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1038/ejhg.2015.195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930098PMC
May 2016

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.

J Child Neurol 2014 Feb 20;29(2):221-6. Epub 2013 Nov 20.

1Department of Pediatric and Adolescent Neurology, Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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http://dx.doi.org/10.1177/0883073813509016DOI Listing
February 2014

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

Ann Neurol 2012 Nov;72(5):807-15

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.

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http://doi.wiley.com/10.1002/ana.23702
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http://dx.doi.org/10.1002/ana.23702DOI Listing
November 2012

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Nat Genet 2012 Nov 21;44(11):1188-90. Epub 2012 Oct 21.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.

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http://dx.doi.org/10.1038/ng.2440DOI Listing
November 2012

Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.

J Child Neurol 2012 Oct 23;27(10):1260-3. Epub 2012 Mar 23.

Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel.

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http://dx.doi.org/10.1177/0883073811433460DOI Listing
October 2012

Novel mutation in KCNQ2 causing benign familial neonatal seizures.

Pediatr Neurol 2009 Nov;41(5):367-70

Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.05.009DOI Listing
November 2009

Epidemiological characteristics of febrile seizures--comparing between Bedouin and Jews in the southern part of Israel.

Seizure 2009 Jan 1;18(1):26-9. Epub 2008 Jul 1.

Pediatric Department, Soroka University Medical Center, Beer-Sheva, Israel.

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http://dx.doi.org/10.1016/j.seizure.2008.05.011DOI Listing
January 2009