Advancing epilepsy genetics in the genomic era
CT Myers, HC Mefford - Genome medicine, 2015 - Springer
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …
Genetic and epigenetic mechanisms of epilepsy: a review
T Chen, M Giri, Z Xia, YN Subedi… - … disease and treatment, 2017 - Taylor & Francis
Epilepsy is a common episodic neurological disorder or condition characterized by recurrent
epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies …
epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies …
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …
The genetic basis of DOORS syndrome: an exome-sequencing study
PM Campeau, D Kasperaviciute, JT Lu… - The Lancet …, 2014 - thelancet.com
Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
(DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to …
(DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to …
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli… - Neurology, 2016 - AAN Enterprises
Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously …
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously …
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway
A Falace, E Buhler, M Fadda, F Watrin… - Proceedings of the …, 2014 - National Acad Sciences
Alterations in the formation of brain networks are associated with several
neurodevelopmental disorders. Mutations in TBC1 domain family member 24 (TBC1D24) …
neurodevelopmental disorders. Mutations in TBC1 domain family member 24 (TBC1D24) …
Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation
Background Cerebral palsy (CP) is a clinical description for a group of motor disorders that
are heterogeneous with respect to causes, symptoms and severity. A diagnosis of CP cannot …
are heterogeneous with respect to causes, symptoms and severity. A diagnosis of CP cannot …
The evolutionarily conserved Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) domain is neuroprotective against oxidative stress
Oxidative stress is a pathological feature of many neurological disorders; therefore, utilizing
proteins that are protective against such cellular insults is a potentially valuable therapeutic …
proteins that are protective against such cellular insults is a potentially valuable therapeutic …
[HTML][HTML] V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities
Vacuolar-type ATPase (v-ATPase) is a multimeric protein complex that regulates H+
transport across membranes and intra-cellular organelle acidification. Catabolic processes …
transport across membranes and intra-cellular organelle acidification. Catabolic processes …
Unresolved questions regarding human hereditary deafness
Human hearing loss is a common neurosensory disorder about which many basic research
and clinically relevant questions are unresolved. This review on hereditary deafness focuses …
and clinically relevant questions are unresolved. This review on hereditary deafness focuses …