STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen… - Neurology, 2016 - AAN Enterprises
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
JR Lemke, E Riesch, T Scheurenbrand… - …, 2012 - Wiley Online Library
Purpose: Epilepsies have a highly heterogeneous background with a strong genetic
contribution. The variety of unspecific and overlapping syndromic and nonsyndromic …
contribution. The variety of unspecific and overlapping syndromic and nonsyndromic …
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 …
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …
the NMDA receptor subunit GluN1 and to investigate their underlying functional …
[HTML][HTML] Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production
P Amini, D Stojkov, A Felser, CB Jackson… - Nature …, 2018 - nature.com
Abstract Optic atrophy 1 (OPA1) is a mitochondrial inner membrane protein that has an
important role in mitochondrial fusion and structural integrity. Dysfunctional OPA1 mutations …
important role in mitochondrial fusion and structural integrity. Dysfunctional OPA1 mutations …
Defining the phenotypic spectrum of SLC6A1 mutations
KM Johannesen, E Gardella, T Linnankivi… - …, 2018 - Wiley Online Library
Summary Objective Pathogenic SLC6A1 variants were recently described in patients with
myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the …
myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the …
[HTML][HTML] FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
D Mitter, M Pringsheim, M Kaulisch, KS Plümacher… - Genetics in …, 2018 - Elsevier
Purpose The study aimed at widening the clinical and genetic spectrum and assessing
genotype–phenotype associations in FOXG1 syndrome due to FOXG1 variants. Methods We …
genotype–phenotype associations in FOXG1 syndrome due to FOXG1 variants. Methods We …
[PDF][PDF] Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway …
C Courage, KL Oliver, EJ Park, JM Cameron… - The American Journal of …, 2021 - cell.com
Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically
heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved …
heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved …
[HTML][HTML] Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with …
K Sonntag, H Hashimoto, M Eyrich, M Menzel… - Journal of translational …, 2018 - Springer
Background Cancer vaccines can effectively establish clinically relevant tumor immunity.
Novel sequencing approaches rapidly identify the mutational fingerprint of tumors, thus …
Novel sequencing approaches rapidly identify the mutational fingerprint of tumors, thus …
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement
C Courage, CB Jackson, D Hahn, L Euro… - American Journal of …, 2017 - Wiley Online Library
Isolated defects of the mitochondrial respiratory complex II (succinate dehydrogenase, SDH)
are rare, accounting for approximately 2% of all respiratory chain deficiency diagnoses …
are rare, accounting for approximately 2% of all respiratory chain deficiency diagnoses …