Publications by authors named "Elzbieta Szczepanik"

27Publications

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects.

Clin Neurol Neurosurg 2020 Sep 18;196:106033. Epub 2020 Jun 18.

Clinic of Paediatric Neurology, Institute of Mother and Child, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.clineuro.2020.106033DOI Listing
September 2020

Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient.

Isr Med Assoc J 2018 Oct;20(10):653-655

Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.

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October 2018

Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation.

Eur J Paediatr Neurol 2018 Sep 27;22(5):882-888. Epub 2018 Apr 27.

Paediatric Neurology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.04.010DOI Listing
September 2018

Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution.

Dev Period Med 2016 Apr-Jun;20(2):110-7

Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.

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September 2016

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

Dev Period Med 2015 Oct-Dec;19(4):454-63

Clinic of Neurology of Child and Adolescents, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland, tel. (+48 22) 32-77-307, fax (+48 22) 32-77-130, e-mail:

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http://www.medwiekurozwoj.pl/articles/2015-4-7.pdf
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May 2016

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Med Wieku Rozwoj 2013 Oct-Dec;17(4):293-300

Department of Medical Genetics, Institute Mother and Child, 01-211 Warsaw, Kasprzaka 17,

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March 2014

Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.

Dev Period Med 2014 Oct-Dec;18(4):426-31

Klinika Neurologii Dzieci i Młodzieży, Instytut Matki i Dziecka, ul. M. Kasprzaka 17a, 01-211 Warszawa, Poland, phone: (+48 22) 32-77-307, e-mail:

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May 2015

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.

Brain Dev 2011 Oct 28;33(9):713-7. Epub 2011 Jan 28.

Department of Child Neurology, Institute of Mother and Child, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.braindev.2010.12.005DOI Listing
October 2011

Quality of life in childhood epilepsy with lateralized epileptogenic foci.

BMC Neurol 2010 Aug 17;10:69. Epub 2010 Aug 17.

Department of Child and Adolescent Psychiatry and Psychotherapy, RWTH Aachen University, Germany.

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http://dx.doi.org/10.1186/1471-2377-10-69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2931463PMC
August 2010

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Brain Dev 2010 Aug 22;32(7):574-8. Epub 2009 Aug 22.

Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040900217
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http://dx.doi.org/10.1016/j.braindev.2009.07.008DOI Listing
August 2010

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

Pediatr Neurol 2009 Aug;41(2):135-8

Department of Medical Genetics, Institute of Mother and Child, Faculty of Health Science, Medical University in Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.02.013DOI Listing
August 2009

[Status epilepticus in the course of epilepsy in children and adolescents].

Neurol Neurochir Pol 2003 Jan-Feb;37(1):49-58

Kliniki Neurologii Dzieci i Młodziezy, Instytutu Matki i Dziecka w Warszawie.

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December 2003