Cargando…

Pump-Opathies: Mutations in Na(+)–K(+)-ATPase Genes Produce Severe Developmental Epileptic Encephalopathies

Detalles Bibliográficos
Autor principal:	Stafstrom, Carl E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2021
Materias:	Current Literature in Basic Science
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8832351/ https://www.ncbi.nlm.nih.gov/pubmed/35233207 http://dx.doi.org/10.1177/15357597211057356

Ejemplares similares

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

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

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

No Gain, Less Pain: GABRB3 Mutations in Epileptic Encephalopathy
por: Gallagher, Martin J.
Publicado: (2022)

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

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

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

Stopped At the Border: Cortical Spreading Depolarization Blocks Seizure Propagation
por: Stafstrom, Carl E.
Publicado: (2020)

How Many Angels Can Dance on the Head of a Patch Pipette? Understanding Neuronal Hyperexcitability in Angelman Syndrome
por: Stafstrom, Carl E.
Publicado: (2020)

To Not Sleep, Perchance to Seize
por: Stafstrom, Carl E.
Publicado: (2022)

Focal Seizures Cruise the Callosal Highway
por: Stafstrom, Carl E.
Publicado: (2022)

Warming Up to the Notion That Febrile Seizures Can Be Associated With Cognitive Impairment
por: Stafstrom, Carl E.
Publicado: (2023)

The Voltage-Sensor S4 Rises to the Occasion in KCNQ2 Channel Activation
por: Stafstrom, Carl E.
Publicado: (2022)

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)

The role of Na(+)‐K(+)‐ATPase in the epileptic brain
por: Sun, Jinyi, et al.
Publicado: (2022)

Get With the (Developmental) Program
por: Maguire, Jamie L.
Publicado: (2020)

Don’t Get BUM’d Out: Bumetanide May yet Prove Beneficial for Neonatal Seizures
por: Stafstrom, Carl E.
Publicado: (2021)

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

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

Oligodendrocyte K(ir)4.1 Channels Clear Out Congested K(+)
por: Lyman, Kyle A., et al.
Publicado: (2019)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Na/K Pump and Beyond: Na/K-ATPase as a Modulator of Apoptosis and Autophagy
por: Felippe Gonçalves-de-Albuquerque, Cassiano, et al.
Publicado: (2017)

Inherited Developmental and Epileptic Encephalopathies
por: Bartolini, Emanuele
Publicado: (2021)

Kinetics of Na-ATPase activity by the Na,K pump. Interactions of the phosphorylated intermediates with Na+, Tris+, and K+
Publicado: (1983)

The ion pathway through the opened Na(+),K(+)-ATPase pump
por: Takeuchi, Ayako, et al.
Publicado: (2008)

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy
por: Shiraku, Hiroshi, et al.
Publicado: (2018)

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

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

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy
por: Hung, Kun-Long, et al.
Publicado: (2022)

Dopaminergic cells repolarization induced by calcium and Na(+)/K(+) ATPase pumps
por: Oprisan, Sorinel A
Publicado: (2010)

The Molecular Dichotomy Between Epileptic and Functional Seizures
por: Szaflarski, Jerzy P.
Publicado: (2021)

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy
por: Ko, Ara, et al.
Publicado: (2018)

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies
por: Sun, Xiaomin, et al.
Publicado: (2019)

Semantic Dementia: a specific network-opathy
por: Fletcher, Phillip D., et al.
Publicado: (2011)

Is Interstitial Cells of Cajal–opathy Present in Gastroparesis?
por: Bashashati, Mohammad, et al.
Publicado: (2015)

Route, mechanism, and implications of proton import during Na(+)/K(+) exchange by native Na(+)/K(+)-ATPase pumps
por: Vedovato, Natascia, et al.
Publicado: (2014)

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)

STXBP1-Related Developmental and Epileptic Encephalopathy
por: Wild, Brittani, et al.
Publicado: (2019)

KCNQ2‐DEE: developmental or epileptic encephalopathy?
por: Berg, Anne T., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_82jb4k6efna6pdvm61cnl52gei