Results 151 to 160 of about 71,386 (306)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

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  

Imaging of epileptic activity using EEG-correlated functional MRI.

, 2005
This thesis describes the method of EEG-correlated fMRI and its application to patients with epilepsy. First, an introduction on MRI and functional imaging methods in the field of epilepsy is provided.
Krakow, K.
core  

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 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  

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 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  

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

[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

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