A5103114475- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Amino Acid Enzymes and Metabolism
- Protein Tyrosine Phosphatases
- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Peptidase Inhibition and Analysis
- Ovarian cancer diagnosis and treatment
- Ion Transport and Channel Regulation
- Autism Spectrum Disorder Research
- Neonatal Health and Biochemistry
- Autophagy in Disease and Therapy
- Pancreatic function and diabetes
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- Biopolymer Synthesis and Applications
- Testicular diseases and treatments
- Congenital heart defects research
- Urologic and reproductive health conditions
- Thyroid Disorders and Treatments
- Biotin and Related Studies
Medical University of Warsaw
2010-2024
University of Warsaw
2023
Polish Academy of Sciences
2012-2022
Mossakowski Medical Research Institute, Polish Academy of Sciences
2010-2022
Radboud University Nijmegen
2022
Radboud University Medical Center
2022
Wojewódzki Szpital Zespolony
2016
Instytut Matki i Dziecka
2008
Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. aim to improve awareness the phenotype available diagnostic therapeutic strategies reduce delayed diagnosis or misdiagnosis, optimize management, understanding pathophysiologic mechanisms.Forty-three individuals SRD were identified from 23 international medical centers. The treatment...
We present four patients, in whom we identified overlapping deletions 5q14.3 involving MEF2C using a clinical oligonucleotide array comparative genomic hybridization (CGH) chromosomal microarray analysis (CMA). In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of 3-year-old patient with severe psychomotor retardation, periodic tremor, and abnormal motor pattern mirror movement upper limbs observed during infancy, hypotonia, EEG, epilepsy, absence...
SARS-CoV-2 infection in healthy children is usually benign. However, severe, life-threatening cases have previously been reported, notably infants. We must be aware that data on the natural history of COVID-19 are still full gaps, especially as far pediatric population concerned. Therefore, it important to describe rare manifestations acute children. Here we present case hemorrhagic necrotizing encephalitis (AHNE) a healthy, 2-month-old male infant with infection. After 2 days fever signs...
<title>Abstract</title> Neurodegenerative disorders leading to dementia often have multifactorial etiologies, but monogenic causes are occasionally identified. We report a three-generation family with two individuals (mother and son) affected by non-syndromic psychiatric disorder featuring early-onset cognitive decline. Exome sequencing revealed novel MAPK1 variant (Y128C), de novo in mother, inherited her son. Modeling demonstrated that the alters regulatory region known as common docking...
We describe a patient with dystonia and psychotic symptoms treated standard doses of antipsychotics, who developed neuroleptic malignant syndrome (NMS). A 16-year-old male history misuse dextromethorphan pseudoephedrine for recreational purpose presented episode. Following continuous treatment olanzapine (10 mg/day), repeated injections levomepromazine (37.5 single injection haloperidol (2.5 mg), the NMS. Muscular rigidity, fever (up to 41 °C), hypotension (100/70 mmHg), tachycardia (120...
Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or sub‐clinical epileptiform activity are accompanied by impairment motor and cognitive functions. Mutations several genes including ion channels other whose function is not completely understood have been associated to some EE. In this report, we provide detailed clinical description sporadic male patient with early‐onset epilepsy epileptic encephalopathy whom performed complete exome...
Claudin-11, a tight junction protein, is indispensable in the formation of radial component myelin. Here, we report de novo stop-loss variants gene encoding claudin-11, CLDN11, three unrelated individuals presenting with an early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Brain MRI showed myelin deficit discrepancy between T1-weighted T2-weighted images some progress myelination especially involving central peripheral white...
While loss-of-function (LoF) variants in KCNQ2 are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) cause more complex phenotype that precludes epilepsy. In the present work, clinical features three patients carrying de novo Y141N (n = 1) or G239S variant 2) respectively, described. All had mild global developmental delay, prominent language deficits, and strong activation interictal epileptic activity during sleep. Epileptic seizures were not reported. The...
We report for the first time a novel missense variant in NHLRC2. extend NHLRC2 gene associated neuropsychological and neuroimaging phenotype, propose that should be considered patients with symptoms of atypical Rett syndrome. also summarise currently available literature on children FINCA who survived into late childhood.By 2021, 10 cases fibrosis, neurodegeneration, cerebral angiomatosis (FINCA, MIM #618278) syndrome have been reported, five causative variants (*618277) identified. First...
Abstract Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It due to mutations gene coding for AADC enzyme responsible synthesis of dopamine serotonin. Using whole exome sequencing, we have identified novel homozygous c.989C > T (p.Pro330Leu) variant deficiency. Pro330 part an essential structural functional element: flexible catalytic loop...
Protein tyrosine phosphatase non‐receptor type 4 ( PTPN4 ) encodes protein implicated in synaptic plasticity and innate immune response. The only report of ‐associated disease described a neurodevelopmental disorder associated with whole gene deletion. We describe child developmental delay, autistic features, hypotonia, increased immunoglobulin E dental problems novel mosaic de novo variant (hg19 chr2:g.120620188 T > C, NM_002830.3:p.[Leu72Ser]/c.215T>C) located domain that controls...
Pontine tegmental cap dysplasiaA hindbrain malformation caused by defective neuronal migration A 13-month-old girl presented with developmental delay, generalized hypotonia, vertical pendular nystagmus, and cranial nerves IV, V, VII paresis.MRI (figure) revealed pontine hypoplasia ectopic dorsal transverse fibers (tegmental cap).Concomitant profound sensorineural deafness a butterfly Th 2 vertebra led to the syndromic diagnosis of dysplasia (PTCD).PTCD has been described date in several...
Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means clinical and laboratory investigations MRI. Additional was required. Cytogenetics, PCR based tests, array-based comparative genome hybridization were performed. In 4 impaired language...