Results 41 to 50 of about 15,708 (241)

ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38

Journal of Rare Diseases
Developmental and epileptic encephalopathy is a rare and severe form of inherited neurodegenerative disorder characterized by various forms of seizures. This condition typically manifests between 4 and 7 months.
Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi   +5 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

, 2023
The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic α amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission.
Kayano Kimura, Ikue Fukuda, Yoshio Makita, Satomi Okano, Kumiko Yanagi, Genya Taketazu, Hajime Tanaka, Tadashi Kaname, Akie Miyamoto   +8 more
core   +1 more source

The phenotype of SCN8A developmental and epileptic encephalopathy [PDF]

, 2018
OBJECTIVE: To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). METHODS: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.
A. Pichiecchio, Gardella, Elena, N. Specchio, Helbig, Ingo, F. Cogliati, Anibaldi, Gaia, Bölsterli, Bigna K, Wolff, Markus, S. Russo, F. Darra, M. Trivisano, Montomoli, Martino, Vigevano, Federico, Trivisano, Marina, R. S. Møller, Johannesen, Katrine M, K. B. Howell, Veggiotti, Pierangelo, S. Siliquini, Alber, Michael, Rubboli, Guido, E. Fontana, Pichiecchio, Anna, Howell, Katherine B, M. P. Fitzgerald, M. Montomoli, S. Beniczky, Fontana, Elena, Specchio, Nicola, Darra, Francesca, Møller, Rikke S; id_orcid, S. Masnada, G. Anibaldi, K. M. Johannesen, C. Marini, P. Veggiotti, Cogliati, Francesca, I. E. Scheffer, B. Jepsen, G. Rubboli, Masnada, Silva, Scheffer, Ingrid E, B. K. Bölsterli, M. Wolff, Beniczky, Sandor, Siliquini, Sabrina, Guerrini, Renzo, E. Gardella, R. Guerrini, Marini, Carla, Fitzgerald, Mark P, I. Helbig, F. Vigevano, Jepsen, Birgit, Møller, Rikke S, Russo, Silvia, M. Alber   +56 more
core   +2 more sources

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Genetic and clinical features of SCN8A developmental and epileptic encephalopathy

, 2019
OBJECTIVE: We aim to delineate the genetic and clinical features of SCN8A developmental and epileptic encephalopathy. METHODS: Nine patients with SCN8A developmental and epileptic encephalopathy were included in this study.
양동화, 김세희, 이승태, 이준수, 김흥동, 강훈철, 김보람, 최종락   +7 more
core   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Long-term outcome of developmental and epileptic encephalopathies

, 2022
International audienceDevelopmental and epileptic encephalopathies are conditions where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy.
van Bogaert, Patrick
core   +1 more source

Neonatal Developmental and Epileptic Encephalopathies.

, 2019
The new concept of developmental and epileptic encephalopathy is based on the understanding that many genetic epilepsies are associated with developmental impairment as a direct consequence of the genetic mutation, in addition to the effect of the ...
El Kosseifi, Charbel, Cilio, Maria-Roberta, Cornet, Marie-Coralie   +2 more
core   +1 more source