Cargando…

No Gain, Less Pain: GABRB3 Mutations in Epileptic Encephalopathy

Detalles Bibliográficos
Autor principal:	Gallagher, Martin J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2022
Materias:	Current Literature in Basic Science
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009129/ https://www.ncbi.nlm.nih.gov/pubmed/36923344 http://dx.doi.org/10.1177/15357597221130199

Ejemplares similares

Dravet Syndrome: A Developmental and Epileptic Encephalopathy
por: Lopez-Santiago, Luis, et al.
Publicado: (2019)

Pump-Opathies: Mutations in Na(+)–K(+)-ATPase Genes Produce Severe Developmental Epileptic Encephalopathies
por: Stafstrom, Carl E.
Publicado: (2021)

Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies
por: Absalom, Nathan L, et al.
Publicado: (2020)

Keeping up with KCNQ2: A New Model of Epileptic Encephalopathy
por: Bottom-Tanzer, Samantha, et al.
Publicado: (2022)

When Monogenic Isn’t Monogenic—Unravelling the Oligogenic Architecture of the Developmental and Epileptic Encephalopathies
por: Scheffer, Ingrid E., et al.
Publicado: (2019)

Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy
por: Beck, Veronica C., et al.
Publicado: (2019)

Epileptic Neurons Know JAK/STAT3
por: Kumari, Shikha, et al.
Publicado: (2023)

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy
por: Papandreou, Apostolos, et al.
Publicado: (2015)

Gaining Awareness of Increasingly Persistent SCN1A Mutations
por: Wong, Jennifer C.
Publicado: (2023)

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies
por: Happ, Hannah C., et al.
Publicado: (2020)

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
por: Absalom, Nathan L., et al.
Publicado: (2022)

GABA(A) Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy
por: Hernandez, Ciria C., et al.
Publicado: (2017)

Using the TTX Model to Better Understand the Pathophysiology of a DREADDed Epilepsy—Infantile (Epileptic) Spasms
por: Stafstrom, Carl E.
Publicado: (2021)

Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report
por: Zhang, Yi, et al.
Publicado: (2017)

One to Rule Them All: A Unique TAU Therapy for Neurodevelopmental Encephalopathies
por: Maffei, Benito, et al.
Publicado: (2022)

Solving the Molecular Basis of the Developmental and Epileptic Encephalopathies: Are We there Yet?
por: Scheffer, Ingrid E.
Publicado: (2021)

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E
por: Carvill, Gemma L.
Publicado: (2019)

Oh, What a Tangled Web Epilepsy Genes May Weave
por: Gallagher, Martin J.
Publicado: (2022)

Mom Controls the Thermostat: Mitochondria Influence the Neuronal Firing Set Point
por: Gallagher, Martin J.
Publicado: (2019)

Reconsidering Network Mechanisms in Absence Seizures: Unhitching the Wave Cart From the Spike Horse
por: Gallagher, Martin J.
Publicado: (2020)

Neuronal Physiology of Generalized Seizures: The 4 Horsemen of Absence Epilepsy
por: Gallagher, Martin J.
Publicado: (2023)

More Hormones, Less Spasms: IGF-1 as a Potential Therapy for Infantile Spasms
por: Dang, Louis T.
Publicado: (2023)

One Size Doesn’t Fit All: Variant-Specific Effects in SCN8A Encephalopathy
por: Wengert, Eric R., et al.
Publicado: (2021)

The System xc- Cystine/Glutamate Antiporter: An Exciting Target for Antiepileptogenic Therapy?
por: Gallagher, Martin
Publicado: (2020)

Yo GABA GABA! Convergent Mechanisms Driven by Gain-of-Function GABRD and Loss-of-Function SLC6A1 Variants Implicate Elevated GABAergic Tone in Generalized Epilepsies
por: Wagnon, Jacy L.
Publicado: (2022)

From Standard of Care to Personalized (Art of) Medicine: Two Novel GABA-A Receptor β3 Subunit Mutations Associated With Epilepsy Syndromes
por: Velisek, Libor
Publicado: (2019)

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
por: Ishii, Atsushi, et al.
Publicado: (2017)

Seizing the Alzheimer’s Brain: A Role for Sirtuin 3 in Hyperexcitability
por: Aroor, Alisha, et al.
Publicado: (2020)

KCa3.1 Impairment Is Not Just a Slow Afterthought in Epilepsy
por: Gross, Christina
Publicado: (2020)

Epilepsy Research Now in 3D: Harnessing the Power of Brain Organoids in Epilepsy
por: Gross, Christina
Publicado: (2022)

The Theta Stone: 3 to 10 Hz Oscillations to Decipher the Human Brain Code
por: de la Prida, Liset Menendez
Publicado: (2019)

How Would You Like Your Epileptic Network? Linear, Nonlinear, Virtual?
por: Gotman, Jean
Publicado: (2020)

Relationship Status Update on Astrocytic VEGFR-3 and mTOR Signaling: It’s Complicated
por: Brewster, Amy L.
Publicado: (2021)

Bad Timing for Epileptic Networks: Role of Temporal Dynamics in Seizures and Cognitive Deficits
por: Lenck-Santini, Pierre-Pascal
Publicado: (2021)

How Epileptic Spikes Impair Memory
por: Gotman, Jean
Publicado: (2021)

Slower, Fewer Hippocampal Ripples in Loss-of-Function Model of Dravet Syndrome
por: Ahmed, Omar J.
Publicado: (2020)

Mechanisms of Subiculum Hyperexcitability in Temporal Lobe Epilepsy
por: Ahmed, Omar J.
Publicado: (2021)

Finding a Fragile Piece to End the Seizure War
por: John, Tibin T., et al.
Publicado: (2022)

A Straw Can Break a Neural Network’s Back and Lead to Seizures—But Only When Delivered at the Right Time
por: Ahmed, Omar J., et al.
Publicado: (2019)

Illuminating Seizures: Combined Optical and Electrophysiological Recording Techniques Provide Novel Insights Into Seizure Dynamics
por: Foutz, Thomas J., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_6lr8u8s2iuk0u2prhgkosd7o4u