Results 141 to 150 of about 5,101 (164)

Genomic Sequencing in Neonatal Encephalopathy and Suspected Hypoxic-Ischaemic Encephalopathy: A Systematic Review. [PDF]

Genes (Basel)
Colacurci D, Sarno L, Fiore E, Raimondi F, Martinelli N, Sirico A, Di Carlo C, Bifulco G, Guida M, Maruotti GM.   +9 more
europepmc   +1 more source

Seven-Year Longitudinal Respiratory Morbidity in Ohtahara Syndrome: A Case Report Emphasizing Integrated Airway and Seizure Care in a Resource-Limited Setting. [PDF]

Case Rep Pediatr
Abualhommos F, Hattab M, Samara M, Suleiman M, Samara E, Abukhater A, Salman I.   +6 more
europepmc   +1 more source

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies. [PDF]

Front Med (Lausanne)
Cimino C, Sortino V, Sapuppo A, Saporito MAN, Scarlata F, Falsaperla R.   +5 more
europepmc   +1 more source

Targeted 3.34-Million CpG Site Sequencing Reveals Preliminary Cord Blood Epigenetic Alterations of Autism Spectrum Disorder: A Pilot Study Highlighting the <i>PCDHA1</i>-<i>PCDHA8</i> Cluster. [PDF]

Int J Mol Sci
Armas-González M, González-González NL, González-Dávila E, Orribo-Morales O, Castro-Conde JR, González-Campos C, Flores C, Lorenzo-Salazar JM, González-Montelongo R, Muñoz-Barrera A, Padrón-Pérez E, Tascón-Padrón L, Núñez Catalán M.   +12 more
europepmc   +1 more source

Clinical characteristics of KCNQ2 encephalopathy

Brain and Development, 2021
Purpose: KCNQ2 mutations are associated with benign familial neonatal epilepsy (BFNE) or developmental and epileptic encephalopathy (DEE). In this study, we aimed to delineate the phenotype of KCNQ2 encephalopathy and evaluate the treatment response ...
Se Hee Kim, Joon Soo Lee, Dongju Won
exaly   +2 more sources

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KCNQ2 and KCNQ5 form heteromeric channels independent of KCNQ3

Proceedings of the National Academy of Sciences of the United States of America, 2022
Jeremy L. Balsbaugh, Anastasios V. Tzingounis, Heun Soh   +2 more
exaly  

Posttranscriptional modulation of KCNQ2 gene expression by the miR-106b microRNA family

Proceedings of the National Academy of Sciences of the United States of America, 2021
Byung-Chang Suh, Kwon-Woo Kim, Byeol-I Kim   +2 more
exaly  

Ketamine exerts its sustained antidepressant effects via cell-type-specific regulation of Kcnq2

Neuron, 2022
Stoyo Karamihalev, Fabian J. Theis, Mathias V Schmidt   +2 more
exaly  

Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy

Acta Pharmacologica Sinica, 2023
exaly