[HTML][HTML] 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 …
A roadmap for precision medicine in the epilepsies
EpiPM Consortium - The Lancet Neurology, 2015 - Elsevier
Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …
[HTML][HTML] Gene mutation analysis in 253 Chinese children with unexplained epilepsy and intellectual/developmental disabilities
Y Zhang, W Kong, Y Gao, X Liu, K Gao, H Xie, Y Wu… - PloS one, 2015 - journals.plos.org
Objective Epilepsy and intellectual/developmental disabilities (ID/DD) have a high rate of co-
occurrence. Here, we investigated gene mutations in Chinese children with unexplained …
occurrence. Here, we investigated gene mutations in Chinese children with unexplained …
[HTML][HTML] Progressive myoclonus epilepsies
R Kälviäinen - Seminars in neurology, 2015 - thieme-connect.com
The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous
disorders defined by the combination of action myoclonus, epileptic seizures, and …
disorders defined by the combination of action myoclonus, epileptic seizures, and …
[HTML][HTML] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing
Abstract The voltage-gated Kv2. 1 potassium channel encoded by KCNB1 produces the
major delayed rectifier potassium current in pyramidal neurons. Recently, de novo …
major delayed rectifier potassium current in pyramidal neurons. Recently, de novo …
Pathogenesis, emerging therapeutic targets and treatment in sialidosis
A d'Azzo, E Machado, I Annunziata - Expert opinion on orphan …, 2015 - Taylor & Francis
Introduction: Sialidosis is a neurosomatic, lysosomal storage disease (LSD) caused by
mutations in the NEU1 gene, encoding the lysosomal sialidase neuraminidase 1 (NEU1) …
mutations in the NEU1 gene, encoding the lysosomal sialidase neuraminidase 1 (NEU1) …
[HTML][HTML] First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and …
K Smets, A Duarri, T Deconinck, B Ceulemans… - BMC medical …, 2015 - Springer
Background Identification of the first de novo mutation in potassium voltage-gated channel,
shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar …
shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar …
[HTML][HTML] A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing
Results from numerous linkage and association studies have greatly deepened scientists'
understanding of the genetic basis of many human diseases, yet some important questions …
understanding of the genetic basis of many human diseases, yet some important questions …
[HTML][HTML] A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability
M Charif, A Roubertie, S Salime, S Mamouni… - Frontiers in …, 2015 - frontiersin.org
Dominant optic neuropathies causing fiber loss in the optic nerve are among the most
frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is …
frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is …
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia
We studied a consanguineous Palestinian Arab family segregating an autosomal recessive
progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal …
progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal …