[HTML][HTML] Clinical application of whole-exome sequencing across clinical indications
K Retterer, J Juusola, MT Cho, P Vitazka, F Millan… - Genetics in …, 2016 - nature.com
Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …
Current knowledge of SLC6A1-related neurodevelopmental disorders
Advances in gene discovery have identified genetic variants in the solute carrier family 6
member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy …
member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy …
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
AS Lindy, MB Stosser, E Butler… - …, 2018 - Wiley Online Library
Objective We evaluated> 8500 consecutive, unselected patients with epilepsy and
neurodevelopmental disorders who underwent multigene panel testing to determine the …
neurodevelopmental disorders who underwent multigene panel testing to determine the …
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …
[HTML][HTML] High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
MB Stosser, AS Lindy, E Butler, K Retterer… - Genetics in …, 2018 - Elsevier
Purpose Mosaicism probably represents an underreported cause of genetic disorders due to
detection challenges during routine molecular diagnostics. The purpose of this study was to …
detection challenges during routine molecular diagnostics. The purpose of this study was to …
[PDF][PDF] Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss
AJ Tanaka, MT Cho, F Millan, J Juusola… - The American Journal of …, 2015 - cell.com
Using whole-exome sequencing, we have identified in ten families 14 individuals with
microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures …
microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures …
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
JA López-Rivera, E Pérez-Palma, J Symonds, AS Lindy… - Brain, 2020 - academic.oup.com
A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic
de novo variants. Epidemiological disease estimates are not available for the vast majority of …
de novo variants. Epidemiological disease estimates are not available for the vast majority of …
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
S Esmaeeli Nieh, MRZ Madou… - Annals of clinical …, 2015 - Wiley Online Library
Objective To determine the cause and course of a novel syndrome with progressive
encephalopathy and brain atrophy in children. Methods Clinical whole‐exome sequencing …
encephalopathy and brain atrophy in children. Methods Clinical whole‐exome sequencing …
[HTML][HTML] High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity
CG Vanoye, RR Desai, Z Ji, S Adusumilli, N Jairam… - JCI insight, 2022 - ncbi.nlm.nih.gov
Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV
7.2 are associated with early onset epilepsy and/or developmental disability, but the …
7.2 are associated with early onset epilepsy and/or developmental disability, but the …
Genetic testing to inform epilepsy treatment management from an international study of clinical practice
D McKnight, A Morales, KE Hatchell, SL Bristow… - JAMA …, 2022 - jamanetwork.com
Importance It is currently unknown how often and in which ways a genetic diagnosis given to
a patient with epilepsy is associated with clinical management and outcomes. Objective To …
a patient with epilepsy is associated with clinical management and outcomes. Objective To …