Lista de obras - Elżbieta Szczepanik - Dominio Público Uruguay

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Diagnostic implications of genetic copy number variation in epilepsy plus

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2015

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

artículo científico publicado en 2009

Idiopathic headache in children

artículo científico publicado en 2000

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

artículo científico publicado en 2018

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

artículo científico publicado en 1996

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

artículo científico publicado en 2016

Quality of life in childhood epilepsy with lateralized epileptogenic foci.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

[Idiopathic absence epilepsy]

scientific article published on 01 January 2001

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

artículo científico publicado en 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

Lista de obras de Elżbieta Szczepanik

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

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

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

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

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

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

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.

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

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

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

Diagnostic implications of genetic copy number variation in epilepsy plus

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.

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

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

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

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Idiopathic headache in children

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

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

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

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

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

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Quality of life in childhood epilepsy with lateralized epileptogenic foci.

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

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

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

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

[Idiopathic absence epilepsy]

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

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

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

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