The genetics of epilepsy
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
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 …
Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival
Primary cilia are microtubule-based sensory organelles whose dysfunction causes
ciliopathies in humans. The formation, function, and maintenance of primary cilia depend …
ciliopathies in humans. The formation, function, and maintenance of primary cilia depend …
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 …
[HTML][HTML] An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling
A Limerick, EA McCabe, JS Turner, KW Kuang… - Cells, 2024 - mdpi.com
Mutations in human CILK1 (ciliogenesis associated kinase 1) are linked to ciliopathies and
epilepsy. Homozygous point and nonsense mutations that extinguish kinase activity impair …
epilepsy. Homozygous point and nonsense mutations that extinguish kinase activity impair …
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 …