Results 141 to 150 of about 1,575,471 (293)

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Pharmacoeconomic analysis of adjuvant use of zonisamide therapy resistant partial epilepsy in adults

Качественная клиническая практика, 2018
The purpose of pharmacoeconomic studies of the drug zonisamide is to determine it’s clinical and cost-effectiveness in adult patients with refractory partial epilepsy in comparison with other new antiepileptic drugs in the conditions of the Russian ...
D. Yu. Belousov, E. V. Afanasyeva, E. A. Efremova   +2 more
doaj  

Profile of perampanel and its potential in the treatment of partial onset seizures

Neuropsychiatric Disease and Treatment, 2013
Sylvain Rheims,1,2 Philippe Ryvlin1,21Department of Functional Neurology and Epileptology and Institute for Children and Adolescent with Epilepsy, Hospices Civils de Lyon, Lyon, France; 2Lyon Neuroscience Research Center, INSERM U1028 / CNRS UMR 5292 ...
Rheims S, Ryvlin P
doaj  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Safety and efficacy of levetiracetam for the treatment of partial onset seizures in children from one month of age

Neuropsychiatric Disease and Treatment, 2013
Justine Cormier, Catherine J ChuMassachusetts General Hospital, Department of Neurology, Programs in Child Neurology and Neurophysiology, Boston, MA, USAAbstract: Epilepsy is a common neurological disorder in the pediatric population, affecting up to one
Cormier J, Chu CJ
doaj  

An Investigation of Sleep Macro‐ and Microarchitecture by APOE Genotype

Annals of Neurology, EarlyView.
Objectives Apolipoprotein E ε4 (APOE ε4), a robust genetic risk factor for Alzheimer's disease (AD) is associated with functional connectivity deficits and amyloid pathology in brain regions involved in sleep regulation. Thus, alterations in sleep architecture may be one pathway through which ε4 contributes to Alzheimer's disease vulnerability. However,
Gawon Cho, Anne Chen, Eunyoung Choi, Orfeu M. Buxton, Daniel Kay, Adam Mecca, Brienne Miner   +6 more
wiley   +1 more source

[Familial partial epilepsies].

Arquivos de neuro-psiquiatria, 2001
To investigate the clinical and genetic characteristics of familial partial epilepsies.Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive family history were further investigated and detailed pedigrees were obtained.
E, Kobayashi, F, Cendes, S C, Sousa, A E, Scotoni, M I, Carvalho, M M, Guerreiro, C A, Guerreiro, I, Lopes-Cendes   +7 more
openaire   +1 more source

Felbamate as an add-on therapy for refractory partial epilepsy. [PDF]

Cochrane Database Syst Rev, 2017
Shi LL, Dong J, Ni H, Geng J, Wu T.
europepmc   +1 more source

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo, Barbara Iazzolino, Cristina Moglia, Umberto Manera, Enrico Matteoni, Sara Cabras, Giorgio Pellegrino, Emilio Minerva, Vita Passidomo, Rosario Vasta, Gabriele Mora, Fabrizio D’Ovidio, Antonio Canosa, Andrea Calvo, Adriano Chiò   +14 more
wiley   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source