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List of works by Elżbieta Szczepanik

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

scientific article

A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.

scientific article

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

scientific article

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

scientific article published in January 2016

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

scientific article published on 23 July 2012

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

scientific article published on 01 October 2018

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

scientific article published on 5 January 2012

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

scientific article published on 30 April 2018

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

scientific article published on 20 June 2015

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

scientific article published on 17 March 2016

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

scientific article published on October 2014

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

scientific article published on January 2015

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

scientific article published on 22 August 2009

Idiopathic headache in children

scientific article published on 01 April 2000

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

scientific article published on 27 April 2018

Intractable epilepsy in children who develop epilepsy in the first decade of life--a prospective study

scientific article published on 01 October 1996

Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy

scientific article published on 03 January 2020

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

scientific article published on 28 January 2011

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

scientific article published in May 2012

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

scientific article published on 01 January 2016

Quality of life in childhood epilepsy with lateralized epileptogenic foci.

scientific article

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

scientific article

Regression of cystic lesions on brain MRI in a child with hypoxic-ischemic encephalopathy treated with selective head cooling

scientific article published in February 2013

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

scientific article published on 22 April 2016

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

[Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].

scientific article published in January 2010

[Idiopathic absence epilepsy]

scientific article published on 01 January 2001

[Patterns of the EEG records in children with West Syndrome]

scientific article published in January 2015

[Positive effect of falbamate therapy in a boy with refractory epilepsy]

scientific article published on 01 January 2000

[Remote results of the treatment of intracranial hemorrhage in children with congenital hemorrhagic diathesis]

scientific article published on 01 May 1988

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

scientific article published on 01 January 2003

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