Results 131 to 140 of about 2,160,312 (268)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Translation and Validation of the Japanese Version of the University of Washington Caregiver Benefit Scale and the Perception of Benefit-Finding by Caregivers of Children With Spina Bifida and Related Factors: Mixed Methods Research and Comparative Analysis. [PDF]

JMIR Pediatr Parent
Cui X, Kawahara T, Yamazaki A.
europepmc   +1 more source

CHILDREN’S LITERATURE, CHILDREN’S POETS AND CHILDREN’S READING

Proceedings of Petrozavodsk State University, 2019
S. М. Loiter, М. D. Yasnov
openaire   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

P169: Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene

Genetics in Medicine Open
Olivia Moran, Cherith Somerville, Miriam Reuter, Kelsey Kalbfleisch, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Raymond Kim, Seema Mital, Rebekah Jobling   +9 more
doaj   +1 more source

Toddlers Are Happier Giving to Others Than to Themselves. [PDF]

Dev Sci
Tan E, de Vondervoort JV, Dhaliwal J, Aknin LB, Hamlin JK.   +4 more
europepmc   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing

Genetics in Medicine Open
Lucie Dupuis, Anna Szuto, Christian Marshall, Lianna Kyriakopoulou, Roberto Mendoza-Londono, Vanda McNiven   +5 more
doaj   +1 more source

The Epidemiology of Sickle Cell Disease in Sub-Saharan Africa: Current Knowledge and Gaps to be Filled. [PDF]

Am J Hematol
Ranque B, Tshilolo L, Williams TN.
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source