Search Results - "Rivier-Ringenbach C"

Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.

Authors: Wang, Chao Zhai, JinXia Chen, YongJun

Source: Neurological Sciences. Nov2024, Vol. 45 Issue 11, p5481-5488. 8p.

Subjects: Missense mutation, Genetic profile, Autism spectrum disorders, Genetic variation, Potassium channels

Pharmacological Actions of Potassium Channel Openers on Voltage-Gated Potassium Channels.

Authors: McCoy, Michael T. Ladenheim, Bruce Cadet, Jean Lud et al.

Source: Pharmaceuticals (14248247). Oct2025, Vol. 18 Issue 10, p1446. 17p.

Novel mutations found in genes involved in global developmental delay and intellectual disability by whole-exome sequencing, homology modeling, and systems biology.

Authors: Moeinifar, Nafiseh Hojati, Zohreh

Source: World Journal of Biological Psychiatry. Mar2025, Vol. 26 Issue 3, p130-145. 16p.

Fine mapping and candidate gene analysis of Dravet syndrome modifier loci on mouse chromosomes 7 and 8.

Authors: Hawkins, Nicole A. Speakes, Nathan Kearney, Jennifer A.

Source: Mammalian Genome. Sep2024, Vol. 35 Issue 3, p334-345. 12p.

Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis.

Authors: Yalçın Çapan Ö; Department of Medical Biology, Faculty of Medicine, Tekirdağ Namık Kemal University, Tekirdağ, Türkiye. oycapan@nku.edu.tr.

Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2025 Feb 13; Vol. 75 (1), pp. 19. Date of Electronic Publication: 2025 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

ALG13-Related Epilepsy: Current Insights and Future Research Directions.

Authors: Gao P Chen H Sun Y et al.

Source: Neurochemical research [Neurochem Res] 2024 Dec 14; Vol. 50 (1), pp. 60. Date of Electronic Publication: 2024 Dec 14.

Publication Type: Journal Article; Review

Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 7613461 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-6903 (Electronic) Linking ISSN: 03643190 NLM ISO Abbreviation: Neurochem Res Subsets: MEDLINE

An integrated approach for early in vitro seizure prediction utilizing hiPSC neurons and human ion channel assays.

Authors: Rockley, Kimberly Roberts, Ruth Jennings, Hannah et al.

Source: Toxicological Sciences. Nov2023, Vol. 196 Issue 1, p126-140. 15p.

Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11.

Authors: Kearney, Jennifer A. Copeland-Hardin, Letonia D. Duarte, Samantha et al.

Source: Mammalian Genome. Dec2022, Vol. 33 Issue 4, p565-574. 10p.

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca 2+ Sensitivity of the Channel.

Authors: Bauer, Christiane K. Holling, Tess Horn, Denise et al.

Source: International Journal of Molecular Sciences. Sep2022, Vol. 23 Issue 17, p9690. 25p.

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

Authors: Bertacchi, Michele Tocco, Chiara Schaaf, Christian P. et al.

Source: Cells (2073-4409). Apr2022, Vol. 11 Issue 8, p1260. 47p.

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.

Authors: Mitusińska, Karolina Góra, Artur Bogdańska, Anna et al.

Source: Biomolecules (2218-273X). Mar2022, Vol. 12 Issue 3, p398. 21p.

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Authors: Bastaki, Fatma Bizzari, Sami Hamici, Sana et al.

Source: Annals of Human Genetics. Jan2018, Vol. 82 Issue 1, p35-47. 13p.

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.

Authors: Miller, A. R. Hawkins, N. A. McCollom, C. E. et al.

Source: Genes, Brain & Behavior. Feb2014, Vol. 13 Issue 2, p163-172. 10p.

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.

Authors: Shi, Y.-W. Yu, M.-J. Long, Y.-S. et al.

Source: Genes, Brain & Behavior. Mar2012, Vol. 11 Issue 2, p170-176. 7p. 2 Diagrams, 2 Charts, 3 Graphs.

Targeting Kv7 Potassium Channels for Epilepsy.

Authors: Perucca E Taglialatela M

Source: CNS drugs [CNS Drugs] 2025 Mar; Vol. 39 (3), pp. 263-288. Date of Electronic Publication: 2025 Jan 24.

Publication Type: Journal Article; Review

Journal Info: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9431220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1934 (Electronic) Linking ISSN: 11727047 NLM ISO Abbreviation: CNS Drugs Subsets: MEDLINE

Congenital Disorders of Glycosylation from a Neurological Perspective.

Authors: Paprocka, Justyna Jezela-Stanek, Aleksandra Tylki-Szymańska, Anna et al.

Source: Brain Sciences (2076-3425). Jan2021, Vol. 11 Issue 1, p88-88. 1p.

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Authors: Létard P Drunat S Vial Y et al.

Source: Human mutation [Hum Mutat] 2018 Mar; Vol. 39 (3), pp. 319-332. Date of Electronic Publication: 2018 Jan 16.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Authors: Dimassi S Labalme A Ville D et al.

Source: Clinical genetics [Clin Genet] 2016 Feb; Vol. 89 (2), pp. 198-204. Date of Electronic Publication: 2015 Jul 30.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.

Authors: Liang Y Wan L Liu X et al.

Source: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2024 Feb; Vol. 84 (1), pp. 75-83. Date of Electronic Publication: 2023 Nov 27.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 8401784 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-474X (Electronic) Linking ISSN: 07365748 NLM ISO Abbreviation: Int J Dev Neurosci Subsets: MEDLINE

A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

Authors: Gazdagh G Mawby R Self JE et al.

Corporate Authors: Gazdagh G Mawby R Self JE et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 900-906. Date of Electronic Publication: 2021 Nov 17.

Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE