Voltage-gated sodium channel dysfunctions in neurological disorders
The pore-forming subunits (α subunits) of voltage-gated sodium channels (VGSC) are
encoded in humans by a family of nine highly conserved genes. Among them, SCN1A …
encoded in humans by a family of nine highly conserved genes. Among them, SCN1A …
SCN1A as a therapeutic target for Dravet syndrome
KA Myers - Expert Opinion on Therapeutic Targets, 2023 - Taylor & Francis
Introduction Dravet syndrome is a severe early infancy-onset developmental and epileptic
encephalopathy. Patients have drug-resistant seizures, as well as significant co-morbidities …
encephalopathy. Patients have drug-resistant seizures, as well as significant co-morbidities …
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A‐related epilepsy
KM Chung, J Hack, J Andrews, M Galindo‐Kelly… - …, 2023 - Wiley Online Library
Objective Genetic variants in the SCN8A gene underlie a wide spectrum of
neurodevelopmental phenotypes including several distinct seizure types and a host of …
neurodevelopmental phenotypes including several distinct seizure types and a host of …
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function …
JB Hack, JC Watkins, MF Hammer - Biology Open, 2024 - journals.biologists.com
Distinguishing clinical subgroups for patients suffering with diseases characterized by a
wide phenotypic spectrum is essential for developing precision therapies. Patients with gain …
wide phenotypic spectrum is essential for developing precision therapies. Patients with gain …
[HTML][HTML] The international SCN8A patient registry: a scientific resource to advance the understanding and treatment of a rare pediatric neurodevelopmental syndrome
JG Andrews, MK Galindo, JB Hack… - Journal of Registry …, 2023 - ncbi.nlm.nih.gov
Genetic variants in the SCN8A gene underlie a wide spectrum of neurodevelopmental
phenotypes that range from severe epileptic encephalopathy to benign familial infantile …
phenotypes that range from severe epileptic encephalopathy to benign familial infantile …
Candesartan restores blood–brain barrier dysfunction, mitigates aberrant gene expression, and extends lifespan in a knockin mouse model of epileptogenesis
MF Hammer, E Bahramnejad, JC Watkins… - Clinical …, 2024 - portlandpress.com
Blockade of Angiotensin type 1 receptor (AT1R) has potential therapeutic utility in the
treatment of numerous detrimental consequences of epileptogenesis, including oxidative …
treatment of numerous detrimental consequences of epileptogenesis, including oxidative …
Greater female than male resilience to mortality and morbidity in the Scn8a mouse model of pediatric epilepsy
E Bahramnejad, ER Barney, S Lester… - International Journal …, 2023 - Taylor & Francis
Aims Females and males of all ages are affected by epilepsy; however, unlike many clinical
studies, most preclinical research has focused on males. Genetic variants in the voltage …
studies, most preclinical research has focused on males. Genetic variants in the voltage …
Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A‐related epilepsy and/or neurodevelopmental disorders
Objective We aimed to develop consensus for diagnosis/management of SCN8A‐related
disorders. Utilizing a modified Delphi process, a global cohort of experienced clinicians and …
disorders. Utilizing a modified Delphi process, a global cohort of experienced clinicians and …
Patients carrying pathogenic SCN8A variants with loss‐ and gain‐of‐function effects can be classified into five subgroups exhibiting varying developmental and …
Objective Phenotypic heterogeneity presents challenges in providing clinical care to patients
with pathogenic SCN8A variants, which underly a wide disease spectrum ranging from …
with pathogenic SCN8A variants, which underly a wide disease spectrum ranging from …
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing
AM Bard, LV Clark, E Cosgun… - American Journal of …, 2024 - Wiley Online Library
The purpose of this study is to gain insights into potential genetic factors contributing to the
infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome …
infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome …