Pages that link to "Q59543383"

The following pages link to Elżbieta Szczepanik (Q59543383):

Displaying 33 items.

• De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome (Q24600816) (← links)
• Quality of life in childhood epilepsy with lateralized epileptogenic foci. (Q33661139) (← links)
• Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. (Q34381783) (← links)
• 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 (Q38777099) (← links)
• Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. (Q38779251) (← links)
• Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report (Q39286707) (← links)
• A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. (Q45018314) (← links)
• 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. (Q48265381) (← links)
• Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient. (Q48478170) (← links)
• Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution (Q48612300) (← links)
• Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. (Q50305970) (← links)
• Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. (Q50316569) (← links)
• 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. (Q50419588) (← links)
• Regression of cystic lesions on brain MRI in a child with hypoxic-ischemic encephalopathy treated with selective head cooling (Q50744707) (← links)
• Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition. (Q53188613) (← links)
• Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children. (Q53814130) (← links)
• 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. (Q54356704) (← links)
• [Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2]. (Q54701228) (← links)
• Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient (Q57487278) (← links)
• Diagnostic implications of genetic copy number variation in epilepsy plus (Q64097577) (← links)
• [Remote results of the treatment of intracranial hemorrhage in children with congenital hemorrhagic diathesis] (Q68016308) (← links)
• Idiopathic headache in children (Q73026697) (← links)
• [Positive effect of falbamate therapy in a boy with refractory epilepsy] (Q73683480) (← links)
• Intractable epilepsy in children who develop epilepsy in the first decade of life--a prospective study (Q73726215) (← links)
• [Status epilepticus in the course of epilepsy in children and adolescents] (Q73793033) (← links)
• [Idiopathic absence epilepsy] (Q73885256) (← links)
• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient (Q83322287) (← links)
• Comprehensive genomic analysis of patients with disorders of cerebral cortical development (Q88506835) (← links)
• Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation (Q88667498) (← links)
• Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis (Q89201381) (← links)
• Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy (Q90446587) (← links)
• The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease (Q95526404) (← links)
• [Patterns of the EEG records in children with West Syndrome] (Q95563703) (← links)