Results 201 to 210 of about 176,674 (312)

Cone Opsins and Inherited Retinal Disease. [PDF]

Cells
Tang M, Park PS.
europepmc   +1 more source

Add‐on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss‐of‐function γ‐aminobutyric acid type A receptor variants

Epilepsia, EarlyView.
Abstract Objective The semisynthetic compound vinpocetine has gained attention as a potential precision medicine for developmental and epileptic encephalopathies caused by loss‐of‐function (LoF) variants in γ‐aminobutyric acid type A (GABAA) receptor genes. As a positive allosteric modulator of GABAA receptors, case reports suggest that vinpocetine can
Cathrine E. Gjerulfsen, Vivian W. Y. Liao, Tomasz S. Mieszczanek, Anne V. Jakobsen, Elena Gardella, Kern Olofsson, Marina Nikanorova, Allan Bayat, Sebastian Ortiz, Sarah Weckhuysen, Cecilie Johannessen Landmark, Orrin Devinsky, Mary Chebib, Philip K. Ahring, Guido Rubboli, Rikke S. Møller   +15 more
wiley   +1 more source

Case Report: Rare malignant teratoma in the right posterior thigh. [PDF]

Front Oncol
Shi Y, Leng P, Tan X, Liu L, Zhao M.
europepmc   +1 more source

The impact of missense mutations on human behavior

Brain Research Bulletin, 2012
Mohajeri, M. Hasan, Giese, K. Peter
openaire   +3 more sources

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation. [PDF]

Front Endocrinol (Lausanne)
Chen Y, Wu S, Gu W.
europepmc   +1 more source

Novel missense and frameshift mutations in the adrenoleukodystrophy gene [PDF]

Japanese Journal of Human Genetics, 1996
H, Ueyama, T, Yamano, M, Shimada, I, Ohkubo   +3 more
openaire   +2 more sources

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

High-Dose Furmonertinib Management of Advanced NSCLC Harboring an EGFR Exon 14 Missense Mutation: A Case Report and Literature Review. [PDF]

Am J Case Rep
Luo JY, Xiang J, Hong XL, Wang Z.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source