|
rs762425351
|
|
Seizures
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
|
rs141970897
|
|
Seizures
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
|
rs1562846694
|
|
Seizures
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
|
rs1334099693
|
|
Seizures
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
|
rs878853169
|
|
Seizures
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
|
30269351 |
2018 |
|
rs869312667
|
|
Seizures
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
|
30269351 |
2018 |
|
rs1556424691
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
|
30236074 |
2018 |
|
rs1556424691
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
CO2-sensitive tRNA modification associated with human mitochondrial disease.
|
29760464 |
2018 |
|
rs113994095
|
|
Seizures
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.
|
29588995 |
2018 |
|
rs113994097
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
|
29474836 |
2019 |
|
rs1555889162
|
|
Seizures
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
|
29264397 |
2017 |
|
rs926027867
|
|
Seizures
|
A |
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
rs1554434435
|
|
Seizures
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
rs1554386687
|
|
Seizures
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
rs1287121256
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
rs121912707
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
|
29056246 |
2017 |
|
rs1554944271
|
|
Seizures
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
rs1554943158
|
|
Seizures
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
rs1057524157
|
|
Seizures
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
rs1057519565
|
|
Seizures
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
rs113994097
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Understanding the Epilepsy in POLG Related Disease.
|
28837072 |
2017 |
|
rs113994095
|
|
Seizures
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
|
28771251 |
2018 |
|
rs1564367605
|
|
Seizures
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
|
28488083 |
2017 |
|
rs1555889162
|
|
Seizures
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
|
28252636 |
2017 |
|
rs1057524157
|
|
Seizures
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |