Genetic potassium channel-associated epilepsies: Clinical review of the Kv family
NM Allen, S Weckhuysen, K Gorman, MD King… - European Journal of …, 2020 - Elsevier
Next-generation sequencing has enhanced discovery of many disease-associated genes in
previously unexplained epilepsies, mainly in developmental and epileptic encephalopathies …
previously unexplained epilepsies, mainly in developmental and epileptic encephalopathies …
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
Introduction: Epileptic disorders are a heterogeneous group of medical conditions with
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Epigenetic integrity is critical for many eukaryotic cellular processes. An important question
is how different epigenetic regulators control development and influence disease. Lysine …
is how different epigenetic regulators control development and influence disease. Lysine …
Reduced Kv3. 1 activity in dentate gyrus parvalbumin cells induces vulnerability to depression
L Medrihan, G Umschweif, A Sinha, S Reed, J Lee… - Biological …, 2020 - Elsevier
Background Parvalbumin (PV)-expressing interneurons are important for cognitive and
emotional behaviors. These neurons express high levels of p11, a protein associated with …
emotional behaviors. These neurons express high levels of p11, a protein associated with …
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy
An increasing number of developmental and epileptic encephalopathies have been
correlated with variants of ion channel genes, and in particular of potassium channels …
correlated with variants of ion channel genes, and in particular of potassium channels …
A genome-wide case-only test for the detection of digenic inheritance in human exomes
G Kerner, M Bouaziz, A Cobat, B Bigio… - Proceedings of the …, 2020 - National Acad Sciences
Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying
monogenic disorders. Incomplete penetrance and variable expressivity suggest a …
monogenic disorders. Incomplete penetrance and variable expressivity suggest a …
Venom-derived modulators of epilepsy-related ion channels
Epilepsy is characterised by spontaneous recurrent seizures that are caused by an
imbalance between neuronal excitability and inhibition. Since ion channels play …
imbalance between neuronal excitability and inhibition. Since ion channels play …
Genetic testing in epilepsy
DM Ritter, K Holland - Seminars in Neurology, 2020 - thieme-connect.com
Because of next-generation sequencing and the discovery of many new causative genes,
genetic testing in epilepsy patients has become widespread. Pathologic variants resulting in …
genetic testing in epilepsy patients has become widespread. Pathologic variants resulting in …
Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth
FL Harms, P Parthasarathy, D Zorndt, M Alawi… - Human …, 2020 - Wiley Online Library
Abstract The family of Tre2‐Bub2‐Cdc16 (TBC)‐domain containing GTPase activating
proteins (RABGAPs) is not only known as key regulatorof RAB GTPase activity but also has …
proteins (RABGAPs) is not only known as key regulatorof RAB GTPase activity but also has …
Whole-exome sequencing in NF1-related west syndrome leads to the identification of KCNC2 as a novel candidate gene for epilepsy
A Rademacher, N Schwarz, S Seiffert… - …, 2020 - thieme-connect.com
Patients with neurofibromatosis type 1 (NF1) have an increased risk for West syndrome
(WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other …
(WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other …