Results 81 to 90 of about 57,250 (276)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Tonic GABAA receptor currents in Cerebellar Purkinje cells of wild-type and DMDmdx mice

Scientific Reports
Cerebellar Purkinje cells (PCs) fire spontaneously and depend heavily on inhibition to modify their activity. While phasic inhibition is well-described in PCs, the presence and mechanisms of tonic inhibitory currents, low amplitude currents resulting ...
Shaarang Mitra, Shailesh N. Khatri, Jason R. Pugh   +2 more
doaj   +1 more source

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Ambient GABA-Activated Tonic Inhibition Sharpens Auditory Coincidence Detection via a Depolarizing Shunting Mechanism [PDF]

, 2011
Tonic inhibition mediated by extrasynaptic GABAAreceptors (GABAARs) has emerged as a novel form of neural inhibition in the CNS. However, little is known about its presence and function in the auditory system. Using whole-cell recordings in brain slices,
Wei Shi, Zheng-Quan Tang, Yong Lu, Emilie Hoang Dinh   +3 more
core   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +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

Potentiation of Tonic Gabaergic Inhibition by Activation of Postsynaptic Kainate Receptors [PDF]

, 2015
Presynaptic kainate-type glutamate ionotropic receptors (KARs) that mediate either the depression or the facilitation of GABA release have been intensively studied.
Kang, J, Jiang, L, Kang, D
core   +1 more source

Rapid Critical Period Induction by Tonic Inhibition in Visual Cortex [PDF]

The Journal of Neuroscience, 2003
Mice lacking a synaptic isoform of glutamic acid decarboxylase (GAD65) do not exhibit ocular dominance plasticity unless an appropriate level of GABAergic transmission is restored by direct infusion of benzodiazepines into the brain. To better understand how intracortical inhibition triggers experience-dependent changes, we dissected the precise timing
Iwai, Youichi, Fagiolini, Michela, Obata, Kunihiko, Hensch, Takao   +3 more
openaire   +4 more sources

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition [PDF]

, 2013
Alcohol dependence is a common, complex and debilitating disorder with genetic and environmental influences. Here we show that alcohol consumption increases following mutations to the γ-aminobutyric acidA receptor (GABAAR) β1 subunit gene (Gabrb1). Using
Mortensen, Martin, Hosie, A.M., David N. Stephens (16174940), Elizabeth M. C. Fisher, Thomas, P., Knapp, S., Ruparelia, K, Claire I. Dixon, Marsha Y. Morgan (4096519), Smart, T.G., Yu Ting Kuo, Delia Belelli, Robinson, Iain, Susanne Knapp, Fisher, EMC, Knapp, Susanne, Morgan, Marsha Y., Gurling, Hugh M. D., Marsha Y. Morgan, Martinez, Alonso, Martin Mortensen, Kuo, Yu-Ting, Kuo, Y.T., Mark A. Ungless (16174934), Knapp, S, Brown, Steve D.M., Smart, Trevor G., Steve D. M. Brown, Brown, SD, Martinez, A., Rohan Bhome (6445514), Howard C. Thomas, Amy Herlihy (3798259), Bell, Jimmy D., Maguire, EP, Maguire, Edward P., Mark A. Ungless, Amy Herlihy, Iain Robinson (16174925), Belelli, Delia, Edward P. Maguire (16174907), Montagnese, Sara, Jeremy J. Lambert (5026574), Belelli, D., Fisher, EM, Herlihy, Amy, Irene Guerrini (16174928), Delia Belelli (5026571), Guerrini, Irene, Howard C. Thomas (2217166), Morgan, MY, Elizabeth M.C. Fisher (16174931), McQuillin, A, Smart, TG, Jimmy D. Bell (111613), McQuillin, A., Fisher, E.M.C., Yu-Ting Kuo (378306), Dixon, Claire I., Bell, JD, Guerrini, I., Dixon, C.I., Dixon, CI, Ungless, MA, Steve D.M. Brown (8433081), Gurling, H.M.D., Anstee, Quentin, Stephens, David N., Jimmy D. Bell, David N. Stephens, Guerrini, I, Kuo, YT, Lambert, J.J., Ruparelia, K., Irene Guerrini, Andrew McQuillin, Herlihy, A, Walker, Sophie E., Ungless, Mark A., Rohan Bhome, Trevor G. Smart, Andrew McQuillin (82209), Alonso Martinez, Stephens, D.N., Ungless, M.A., Quentin M. Anstee, Bhome, Rohan, Edward P. Maguire, Brown, SDM, Lambert, JJ, Hosie, Alastair M., Kush Ruparelia, Sophie E. Walker, Kush Ruparelia (16174922), Anstee, QM, Susanne Knapp (12076790), Hugh M. D. Gurling, Morgan, M.Y., Hugh M.D. Gurling (16174937), Alastair M. Hosie (16174910), Alonso Martinez (16174913), Bhome, R., Trevor G. Smart (7522400), Sara Montagnese (454791), Robinson, I, Thomas, H.C., Thomas, Howard C., Bhome, R, Walker, S.E., Martinez, A, Robinson, I., Quentin M. Anstee (8786612), Mortensen, M., Herlihy, A.H., Montagnese, S, Fisher, Elizabeth M.C., Lambert, Jeremy, Anstee, Q.M., Gurling, HM, McQuillin, Andrew, Jeremy J. Lambert, Walker, SE, Philip Thomas (31680), Belelli, D, Thomas, Philip, Alastair M. Hosie, Martin Mortensen (3465659), Philip Thomas, Maguire, E.P., Claire I. Dixon (16174919), Montagnese, S., Iain Robinson, Thomas, HC, Bell, J.D., Brown, S.D.M., Kuo, Y-T, Gurling, HMD, Hosie, AM, Thomas, P, Mortensen, M, Sophie E. Walker (16174916), Ruparelia, Kush, Stephens, DN   +142 more
core   +1 more source