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Genetic variations in GABA metabolism and epilepsy.
Feng Y, Wei ZH, Liu C, Li GY, Qiao XZ, Gan YJ, Zhang CC, Deng YC. Feng Y, et al. Seizure. 2022 Oct;101:22-29. doi: 10.1016/j.seizure.2022.07.007. Epub 2022 Jul 15. Seizure. 2022. PMID: 35850019 Free article. Review.
Epilepsy is a paroxysmal brain disorder that results from an imbalance between neuronal excitation and inhibition. Gamma-aminobutyric acid (GABA) is the most important inhibitory neurotransmitter in the brain and plays an important role in the occurrence and …
Epilepsy is a paroxysmal brain disorder that results from an imbalance between neuronal excitation and inhibition. Gamma-amino …
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano M, De Dominicis A, Micalizzi A, Ferretti A, Dentici ML, Terracciano A, Calabrese C, Vigevano F, Novelli G, Novelli A, Specchio N. Trivisano M, et al. Seizure. 2022 Oct;101:211-217. doi: 10.1016/j.seizure.2022.09.002. Epub 2022 Sep 3. Seizure. 2022. PMID: 36087421 Free article. Review.
Here, we report a patient with an epileptic phenotype carrying a novel missense mutation characterized by developmental and epileptic encephalopathy with infantile spasms. ...CONCLUSION: This case expands the genetic landscape of infantile spasms as we …
Here, we report a patient with an epileptic phenotype carrying a novel missense mutation characterized by developmental and …
The role of PCDH19 in refractory status epilepticus.
Trivisano M, Specchio N. Trivisano M, et al. Epilepsy Behav. 2019 Dec;101(Pt B):106539. doi: 10.1016/j.yebeh.2019.106539. Epub 2019 Oct 31. Epilepsy Behav. 2019. PMID: 31678000 Review.
PCDH19-Girls Clustering Epilepsy (GCE) is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. ...
PCDH19-Girls Clustering Epilepsy (GCE) is an epileptic syndrome with infantile onset, characterized by clustered and fever-ind …
What is the role of next generation sequencing in status epilepticus?
Guerrini R, Parrini E, Marini C, Mei D. Guerrini R, et al. Epilepsy Behav. 2019 Dec;101(Pt B):106373. doi: 10.1016/j.yebeh.2019.06.017. Epub 2019 Jul 9. Epilepsy Behav. 2019. PMID: 31300382 Review.
In children, it may be a recurrent manifestation in the context of heterogeneous severe developmental genetic encephalopathies, as well as the first neurological manifestation. ...Most genetic conditions featuring status epilepticus can be assigned to specific pheno …
In children, it may be a recurrent manifestation in the context of heterogeneous severe developmental genetic encephalopathies …
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E. Pavone P, et al. Medicine (Baltimore). 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413. Medicine (Baltimore). 2022. PMID: 35945798 Free PMC article. Review.
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysmal manifestations of tonic and dystonic attacks, nystagmus with other oculomotor abnormalities, respiratory and autonomic dysfunctions. AHC …
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysm …
Can we and should we use animal models to study neurobehavioral comorbidities of epilepsy?
Mazarati A. Mazarati A. Epilepsy Behav. 2019 Dec;101(Pt A):106566. doi: 10.1016/j.yebeh.2019.106566. Epub 2019 Nov 5. Epilepsy Behav. 2019. PMID: 31699663 Review.
Developmental studies are required to adequately address age-specific aspects of the comorbidities. ...Special Issue: Epilepsy & Behavior's 20th Anniversary....
Developmental studies are required to adequately address age-specific aspects of the comorbidities. ...Special Issue: Epilepsy …
Quantitative relaxometry of the brain.
Deoni SC. Deoni SC. Top Magn Reson Imaging. 2010 Apr;21(2):101-13. doi: 10.1097/RMR.0b013e31821e56d8. Top Magn Reson Imaging. 2010. PMID: 21613875 Free PMC article. Review.
Although the intricate relationships that link tissue microstructure and the longitudinal and transverse relaxation times remain to be firmly established, quantitative measurement of these parameters, also referred to as quantitative relaxometry, can be informative of disease-rel …
Although the intricate relationships that link tissue microstructure and the longitudinal and transverse relaxation times remain to be firml …
Using artwork to understand and address the psychosocial challenges facing children and adolescents with epilepsy.
Stafstrom CE. Stafstrom CE. Epilepsy Behav. 2019 Dec;101(Pt A):106572. doi: 10.1016/j.yebeh.2019.106572. Epub 2019 Nov 9. Epilepsy Behav. 2019. PMID: 31711867 Review.
Artwork is a valuable and underutilized technique for exploring the self-esteem and psychological challenges facing children and adolescents with epilepsy and other chronic diseases. Having children with epilepsy draw a picture of their seizure correlates rel …
Artwork is a valuable and underutilized technique for exploring the self-esteem and psychological challenges facing children and adolescents …
Intraoperative magnetic resonance imaging in epilepsy surgery: A systematic review and meta-analysis.
Englman C, Malpas CB, Harvey AS, Maixner WJ, Yang JY. Englman C, et al. J Clin Neurosci. 2021 Sep;91:1-8. doi: 10.1016/j.jocn.2021.06.035. Epub 2021 Jun 27. J Clin Neurosci. 2021. PMID: 34373012 Review.
Studies comparing iMRI-guided epilepsy surgery to non-iMRI surgery controls were selected for meta-analysis using random-effects models. ...Currently, there is only level III-2 evidence supporting the use of iMRI-guidance over conventional non-iMRI epilepsy surgery, …
Studies comparing iMRI-guided epilepsy surgery to non-iMRI surgery controls were selected for meta-analysis using random-effects mode …
Diffusion tensor tractography imaging in pediatric epilepsy - A systematic review.
Szmuda M, Szmuda T, Springer J, Rogowska M, Sabisz A, Dubaniewicz M, Mazurkiewicz-Bełdzińska M. Szmuda M, et al. Neurol Neurochir Pol. 2016;50(1):1-6. doi: 10.1016/j.pjnns.2015.10.003. Epub 2015 Oct 29. Neurol Neurochir Pol. 2016. PMID: 26851683 Review.
PURPOSE: Recent years brought several experimental and clinical reports applying diffusion tensor tractography imaging (DTI) of the brain in epilepsy. This study was aimed to evaluate current evidence for adding the DTI sequence to the standard diagnostic magnetic r …
PURPOSE: Recent years brought several experimental and clinical reports applying diffusion tensor tractography imaging (DTI) of the brain …
13 results