Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
JK Knowles, I Helbig, CS Metcalf, LS Lubbers… - …, 2022 - Wiley Online Library
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …
The genetic landscape of the epileptic encephalopathies of infancy and childhood
Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …
group of severe epilepsies characterised by several seizure types, frequent epileptiform …
Neurotransmitter release: the last millisecond in the life of a synaptic vesicle
TC Südhof - Neuron, 2013 - cell.com
During an action potential, Ca 2+ entering a presynaptic terminal triggers synaptic vesicle
exocytosis and neurotransmitter release in less than a millisecond. How does Ca 2+ …
exocytosis and neurotransmitter release in less than a millisecond. How does Ca 2+ …
De novo mutations in epileptic encephalopathies
Nature, 2013 - nature.com
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders
for which the cause is often unknown. Here we report a screen for de novo mutations in …
for which the cause is often unknown. Here we report a screen for de novo mutations in …
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009
AT Berg, SF Berkovic, MJ Brodie, J Buchhalter… - 2010 - Wiley Online Library
Summary The International League Against Epilepsy (ILAE) Commission on Classification
and Terminology has revised concepts, terminology, and approaches for classifying …
and Terminology has revised concepts, terminology, and approaches for classifying …
Chaperoning SNARE folding and assembly
Y Zhang, FM Hughson - Annual review of biochemistry, 2021 - annualreviews.org
SNARE proteins and Sec1/Munc18 (SM) proteins constitute the core molecular engine that
drives nearly all intracellular membrane fusion and exocytosis. While SNAREs are known to …
drives nearly all intracellular membrane fusion and exocytosis. While SNAREs are known to …
Assessing the landscape of STXBP1-related disorders in 534 individuals
Disease-causing variants in STXBP1 are among the most common genetic causes of
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related …
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related …
[HTML][HTML] De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
GL Carvill, S Weckhuysen, JM McMahon, C Hartmann… - Neurology, 2014 - AAN Enterprises
Objective: To determine the genes underlying Dravet syndrome in patients who do not have
an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in …
an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in …
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
S Appenzeller, R Balling, N Barisic… - American journal of …, 2014 - escholarship.org
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …