Cargando…

Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies—Data from a Romanian Cohort

Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are associated with severe cognitive, behavioral, and developmental impairments. Genetic DEEs have heterogeneous etiologies. This study includes...

Descripción completa

Detalles Bibliográficos
Autores principales:	Riza, Anca-Lelia, Streață, Ioana, Roza, Eugenia, Budișteanu, Magdalena, Iliescu, Catrinel, Burloiu, Carmen, Dobrescu, Mihaela-Amelia, Dorobanțu, Stefania, Dragoș, Adina, Grigorescu, Andra, Tătaru, Tiberiu, Ioana, Mihai, Teleanu, Raluca
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322987/ https://www.ncbi.nlm.nih.gov/pubmed/35886038 http://dx.doi.org/10.3390/genes13071253

Ejemplares similares

Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase
por: Constantin, Andreea Teodora, et al.
Publicado: (2023)

Association between genetic variants and depression in a Romanian cohort
por: Costache, Andrei, et al.
Publicado: (2021)

Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort
por: Streață, Ioana, et al.
Publicado: (2022)

Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study
por: Popescu-Hobeanu, Gabriela, et al.
Publicado: (2022)

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome
por: Papuc, Sorina Mihaela, et al.
Publicado: (2023)

Phenotype Heterogeneity in 3q29 Microduplication Syndrome
por: STREATA, IOANA, et al.
Publicado: (2020)

Characterization of sepsis inflammatory endotypes using circulatory proteins in patients with severe infection: a prospective cohort study
por: Ricaño-Ponce, Isis, et al.
Publicado: (2022)

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients
por: Budisteanu, Magdalena, et al.
Publicado: (2021)

Neurocognitive impairment screening in Romanian HCV infected patients
por: Cercel, Ioana-Catrinel, et al.
Publicado: (2013)

GRIN2A Variant in A 3-Year-Old—An Expanding Spectrum?
por: Gheța, Ioana, et al.
Publicado: (2021)

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania
por: Iuhas, Alin, et al.
Publicado: (2023)

The psychiatric phenotype of 15q11.2-q13.3 duplications
por: Budisteanu, M., et al.
Publicado: (2021)

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature
por: Neagu, Alexandra-Cristina, et al.
Publicado: (2022)

Neurotransmitters—Key Factors in Neurological and Neurodegenerative Disorders of the Central Nervous System
por: Teleanu, Raluca Ioana, et al.
Publicado: (2022)

Functional Neurological Disorder–Old Problem New Perspective
por: Perjoc, Radu-Stefan, et al.
Publicado: (2023)

Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
por: Teleanu, Raluca Ioana, et al.
Publicado: (2023)

An Overview of Oxidative Stress, Neuroinflammation, and Neurodegenerative Diseases
por: Teleanu, Daniel Mihai, et al.
Publicado: (2022)

The State of the Art of Pediatric Multiple Sclerosis
por: Teleanu, Raluca Ioana, et al.
Publicado: (2023)

Serum Amino Acid Profiling in Children with Autistic Spectrum Disorder: Insights from a Single-Center Study in Southern Romania
por: Anastasescu, Cătălina Mihaela, et al.
Publicado: (2023)

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene
por: Riza, Anca-Lelia, et al.
Publicado: (2022)

Acceptance and Factors Influencing Acceptance of COVID-19 Vaccine in a Romanian Population
por: Ionescu, Tiberiu Constantin, et al.
Publicado: (2022)

Diagnosis stability and outcome of psychotic episodes in a Romanian group of children and adolescents
por: Rad, Florina, et al.
Publicado: (2022)

Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
por: STREAȚĂ, I., et al.
Publicado: (2016)

A Prospective Study of CPAP Therapy in Relation to Cardiovascular Outcome in a Cohort of Romanian Obstructive Sleep Apnea Patients
por: Chetan, Ioana Maria, et al.
Publicado: (2021)

Multidisciplinary approach in children with autism spectrum disorder
por: Stanciu, A.C., et al.
Publicado: (2021)

5-fluorouracil therapeutic drug monitoring and adverse events in a Romanian population
por: Deac, Andrada-Larisa, et al.
Publicado: (2023)

Hemostatic Cryogels Based on Oxidized Pullulan/Dopamine with Potential Use as Wound Dressings
por: Baron, Raluca Ioana, et al.
Publicado: (2022)

Neurotoxicity of Nanomaterials: An Up-to-Date Overview
por: Teleanu, Daniel Mihai, et al.
Publicado: (2019)

Neuronanomedicine: An Up-to-Date Overview
por: Teleanu, Daniel Mihai, et al.
Publicado: (2019)

Tumor Angiogenesis and Anti-Angiogenic Strategies for Cancer Treatment
por: Teleanu, Raluca Ioana, et al.
Publicado: (2019)

Designing the Well-Being of Romanians by Achieving Mental Health with Digital Methods and Public Health Promotion
por: Brătucu, Gabriel, et al.
Publicado: (2022)

miR-499a rs3746444 A>G Polymorphism Is Correlated with Type 2 Diabetes Mellitus and Diabetic Polyneuropathy in a Romanian Cohort: A Preliminary Study
por: Burada, Emilia, et al.
Publicado: (2023)

Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)
por: Lazea, Cecilia, et al.
Publicado: (2021)

No Association between 25-Hydroxyvitamin D and Insulin Resistance or Thyroid Hormone Concentrations in a Romanian Observational Study
por: Stoica, Roxana Adriana, et al.
Publicado: (2020)

Impact of Stress and Financials on Romanian Infertile Women Accessing Assisted Reproductive Treatment
por: Margan, Roxana, et al.
Publicado: (2022)

The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy: From Child to Adult—Insights from a Tertiary Centre for Rare Neurological Diseases
por: Lupu, Maria, et al.
Publicado: (2023)

Impact of Nanoparticles on Brain Health: An Up to Date Overview
por: Teleanu, Daniel Mihai, et al.
Publicado: (2018)

Blood-Brain Delivery Methods Using Nanotechnology
por: Teleanu, Daniel Mihai, et al.
Publicado: (2018)

Nanomaterials for Drug Delivery to the Central Nervous System
por: Teleanu, Daniel Mihai, et al.
Publicado: (2019)

Contrast Agents Delivery: An Up-to-Date Review of Nanodiagnostics in Neuroimaging
por: Teleanu, Daniel Mihai, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_m2u4tuvnsdris80vjiftdl0887