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Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter
Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosomeExpand
Profiling of Circulating Serum MicroRNAs in Children with Autism Spectrum Disorder using Stem-loop qRT-PCR Assay
Abstract Background: Development of biomarkers for autism spectrum disorder (ASD) has still remained a challenge to date. Recently, alterations of the expression of microRNAs (miRNAs) in peripheralExpand
Migraine variants – Occurrence in pediatric neurology practice
UNLABELLED Migraine is common in pediatric neurology practice, while migraine variants are rare and pose diagnostic problems. OBJECTIVE The aim was to establish the occurrence of migraine variantsExpand
Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature
Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizureExpand
Central Nervous System Involvement in Henoch-Schonlein Purpura in Children and Adolescents
Central nervous system (CNS) involvement in Henoch-Schonlein purpura (HSP) is rare but poses diagnostic difficulties. The aim of the study was to establish the frequency of CNS involvement in HSP, toExpand
TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation
Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings andExpand
Aniridia: Recent achievements in paediatric practice
Aniridia is a rare panocular disorder which primarily involves not only the iris, but also the retina, optic nerve, lens and cornea. Visual acuity deteriorates as a result of nystagmus, glaucoma,Expand
Does lenticulostriate vasculopathy predipose to ischemic brain infarct? A case report
Lenticulostriate vasculopathy (LSV) is a sonographic finding in infancy with obscure etiology and variable diagnostic and prognostic significance. Ischemic infarct in the territory of theExpand
Acute confusional migraine: is it a distinct form of migraine?
The International Classification of Headache Disorders (ICHD‐II) – 2004 recognises many migraine variants (different from migraine without aura and migraine with typical aura), but acute confusionalExpand
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3,Expand