The genetics of epilepsy
P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
Genetic landscape of common epilepsies: advancing towards precision in treatment
Epilepsy, a neurological disease characterized by recurrent seizures, is highly
heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types …
heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types …
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy
D Roshandel, EJ Sanders, A Shakeshaft… - npj Genomic …, 2023 - nature.com
Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD),
bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide …
bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide …
Subtle brain developmental abnormalities in the pathogenesis of juvenile myoclonic epilepsy
M Gilsoul, T Grisar, AV Delgado-Escueta… - Frontiers in Cellular …, 2019 - frontiersin.org
Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the
most common of genetic generalized epilepsy syndromes. JME is characterized by …
most common of genetic generalized epilepsy syndromes. JME is characterized by …
Post-translational modification enzymes as key regulators of ciliary protein trafficking
T Chaya, T Furukawa - The journal of biochemistry, 2021 - academic.oup.com
Primary cilia are evolutionarily conserved microtubule-based organelles that protrude from
the surface of almost all cell types and decode a variety of extracellular stimuli. Ciliary …
the surface of almost all cell types and decode a variety of extracellular stimuli. Ciliary …
Anterograde trafficking of ciliary MAP kinase–like ICK/CILK1 by the intraflagellar transport machinery is required for intraciliary retrograde protein trafficking
K Nakamura, T Noguchi, M Takahara, Y Omori… - Journal of Biological …, 2020 - ASBMB
ICK (also known as CILK1) is a mitogen-activated protein kinase–like kinase localized at the
ciliary tip. Its deficiency is known to result in the elongation of cilia and causes ciliopathies in …
ciliary tip. Its deficiency is known to result in the elongation of cilia and causes ciliopathies in …
Ciliogenesis associated kinase 1: targets and functions in various organ systems
Z Fu, CD Gailey, EJ Wang, DL Brautigan - FEBS letters, 2019 - Wiley Online Library
Ciliogenesis associated kinase 1 (CILK1) was previously known as intestinal cell kinase
because it was cloned from that origin. However, CILK1 is now recognized as a widely …
because it was cloned from that origin. However, CILK1 is now recognized as a widely …
The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia
JS Turner, EA McCabe, KW Kuang… - … and Cellular Biology, 2023 - Taylor & Francis
The primary cilium functions as a cellular sensory organelle and signaling antenna that
detects and transduces extracellular signals. Mutations in the human gene CILK1 …
detects and transduces extracellular signals. Mutations in the human gene CILK1 …
The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis
R Tsutsumi, T Chaya, T Tsujii, T Furukawa - Journal of Biological Chemistry, 2022 - ASBMB
In humans, ciliary dysfunction causes ciliopathies, which present as multiple organ defects,
including developmental and sensory abnormalities. Sdccag8 is a centrosomal/basal body …
including developmental and sensory abnormalities. Sdccag8 is a centrosomal/basal body …
Imaging genetics in epilepsy: current knowledge and new perspectives
G Wang, W Wu, Y Xu, Z Yang, B Xiao… - Frontiers in Molecular …, 2022 - frontiersin.org
Epilepsy is a neurological network disease with genetics playing a much greater role than
was previously appreciated. Unfortunately, the relationship between genetic basis and …
was previously appreciated. Unfortunately, the relationship between genetic basis and …