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Quoted phrase not found in phrase index: "Channelopathy with epilepsy"
Page 1
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F. Kessi M, et al. Orphanet J Rare Dis. 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. Orphanet J Rare Dis. 2021. PMID: 33985586 Free PMC article. Review.
BACKGROUND: Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental delay (GDD) has …
BACKGROUND: Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Never …
Sudden unexpected death in epilepsy: A critical view of the literature.
Giussani G, Falcicchio G, La Neve A, Costagliola G, Striano P, Scarabello A, Mostacci B, Beghi E; LICE SUDEP study group. Giussani G, et al. Epilepsia Open. 2023 Sep;8(3):728-757. doi: 10.1002/epi4.12722. Epub 2023 May 17. Epilepsia Open. 2023. PMID: 36896633 Free PMC article. Review.
Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented st …
Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, …
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
These variants produce changes in agonist EC(50), response time course, desensitization, and/or receptor surface expression. We predict that these functional and localization changes will have important consequences for circuit function, and therefore likely contribute to …
These variants produce changes in agonist EC(50), response time course, desensitization, and/or receptor surface expression. We predict …
Epilepsies associated with hippocampal sclerosis.
Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ. Cendes F, et al. Acta Neuropathol. 2014 Jul;128(1):21-37. doi: 10.1007/s00401-014-1292-0. Epub 2014 May 14. Acta Neuropathol. 2014. PMID: 24823761 Review.
Hippocampal sclerosis (HS) is considered the most frequent neuropathological finding in patients with mesial temporal lobe epilepsy (MTLE). Hippocampal specimens of pharmacoresistant MTLE patients that underwent epilepsy surgery for seizure control reveal the charac …
Hippocampal sclerosis (HS) is considered the most frequent neuropathological finding in patients with mesial temporal lobe epilepsy ( …
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P, Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Taglialatela M. Nappi P, et al. Pflugers Arch. 2020 Jul;472(7):881-898. doi: 10.1007/s00424-020-02404-2. Epub 2020 Jun 6. Pflugers Arch. 2020. PMID: 32506321 Review.
Prolonged or intractable seizures have a detrimental effect on cognition and brain function in experimental animals and are associated with adverse long-term neurodevelopmental sequelae and an increased risk of post-neonatal epilepsy in humans. The developing brain is part …
Prolonged or intractable seizures have a detrimental effect on cognition and brain function in experimental animals and are associated with …
CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.
Li J, Lin SM, Qiao JD, Liu XR, Wang J, Jiang M, Zhang J, Zhong M, Chen XQ, Zhu J, He N, Su T, Shi YW, Yi YH, Liao WP; China Epilepsy Gene 1.0 Project. Li J, et al. CNS Neurosci Ther. 2022 Mar;28(3):382-389. doi: 10.1111/cns.13781. Epub 2021 Dec 23. CNS Neurosci Ther. 2022. PMID: 34951123 Free PMC article.
AIMS: To identify novel pathogenic gene of febrile seizures (FS)/epilepsy with antecedent FS (EFS+). METHODS: The trio-based whole-exome sequencing was performed in a cohort of 462 cases with FS/EFS+. Silico programs, sequence alignment, and protein modeling were used to …
AIMS: To identify novel pathogenic gene of febrile seizures (FS)/epilepsy with antecedent FS (EFS+). METHODS: The trio-based whole-ex …
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Escayg A, Goldin AL. Escayg A, et al. Epilepsia. 2010 Sep;51(9):1650-8. doi: 10.1111/j.1528-1167.2010.02640.x. Epilepsia. 2010. PMID: 20831750 Free PMC article. Review.
Mutations in a number of genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, severe myoclonic epilepsy of infancy). …
Mutations in a number of genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes in humans, including gene …
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.
Miller JP, Moldenhauer HJ, Keros S, Meredith AL. Miller JP, et al. Channels (Austin). 2021 Dec;15(1):447-464. doi: 10.1080/19336950.2021.1938852. Channels (Austin). 2021. PMID: 34224328 Free PMC article.
KCNMA1-linked channelopathy is an emerging neurological disorder characterized by heterogeneous and overlapping combinations of movement disorder, seizure, developmental delay, and intellectual disability. ...In this newly expanded cohort, seizures showed no differential d …
KCNMA1-linked channelopathy is an emerging neurological disorder characterized by heterogeneous and overlapping combinations of movem …
Precision physiology and rescue of brain ion channel disorders.
Noebels J. Noebels J. J Gen Physiol. 2017 May 1;149(5):533-546. doi: 10.1085/jgp.201711759. Epub 2017 Apr 20. J Gen Physiol. 2017. PMID: 28428202 Free PMC article. Review.
Their arrival is heralded by neurologists confounded by a broad phenotypic spectrum of early-onset epilepsy, autism, and cognitive impairment with few effective treatments. As detection of rare structural variants in channel subunit proteins becomes routine, it is apparent …
Their arrival is heralded by neurologists confounded by a broad phenotypic spectrum of early-onset epilepsy, autism, and cognitive im …
Dendritic Integration Dysfunction in Neurodevelopmental Disorders.
Nelson AD, Bender KJ. Nelson AD, et al. Dev Neurosci. 2021;43(3-4):201-221. doi: 10.1159/000516657. Epub 2021 Jun 17. Dev Neurosci. 2021. PMID: 34139699 Free PMC article. Review.
Understanding how dysfunction in these genes contributes to phenotypes observed in ASD and ID remains a major question in neuroscience. In this review, we highlight emerging evidence suggesting that dysfunction in dendrites - regions of neurons that receive synaptic input …
Understanding how dysfunction in these genes contributes to phenotypes observed in ASD and ID remains a major question in neuroscienc …
83 results