|
rs1799971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The OPRM1 (rs1799971) polymorphism was investigated in an association study of a group of ADS patients (n = 177) and in subgroups (delirium tremens and/or seizures, age at onset <26 years, dissocial alcoholics, positive familial history of alcoholism, delirium tremens, and seizures).
|
30085428 |
2019 |
|
rs180177042
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures.
|
31217210 |
2019 |
|
rs368001837
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient 1 (NM_153033.4: c.[533C > T], NP_694578: p.[(Ala178Val)]) was a 17-year-old girl who presented with early-onset epilepsy resembling epilepsia partialis continua (responsive to intravenous corticosteroids and immunoglobulins), and later developed myoclonic seizures and atypical absences, photosensitivity to very low frequencies and progressive seizures-related neurocognitive and motor deterioration.
|
30500434 |
2019 |
|
rs4869682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When adjusting for multiple comparisons, rs4869682 genotypes (SLC1A3, GG vs. T-carriers) were associated with time to first seizure (p = 0.003).
|
29999457 |
2019 |
|
rs4880
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Involvement of MnSOD Ala16Val polymorphism in epilepsy: A relationship with seizure type, inflammation, and metabolic syndrome.
|
31212050 |
2019 |
|
rs587777057
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Male Gnao1+/G203R mice also showed enhanced seizure propensity in the pentylenetetrazole kindling test.
|
30682176 |
2019 |
|
rs61748389
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.
|
30569584 |
2019 |
|
rs62653623
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we showed that acute treatment with the GluA2-lacking AMPAR blocker IEM-1460 decreased AMPAR currents, and rescued social deficits, working memory impairments, and seizure behavior latency in R59X mice.<b>SIGNIFICANCE STATEMENT</b> CDKL5 deficiency disorder (CDD) is a rare disease marked by autistic-like behaviors, intellectual disability, and seizures.
|
30952813 |
2019 |
|
rs763000109
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Involvement of MnSOD Ala16Val polymorphism in epilepsy: A relationship with seizure type, inflammation, and metabolic syndrome.
|
31212050 |
2019 |
|
rs786205724
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Notably, expression of the AnkB variant associated with seizure (AnkB p.S646F) caused further increase in intracellular Cav2.1 levels above that of even wildtype AnkB.
|
31477143 |
2019 |
|
rs868950793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The main complain in the first patient with creatine transporter (CRTR) deficiency was seizure and genetic study in this patient identified a novel hemizygote variant of "c.92 > T; p.Pro31Leu" in the first exon of SLC6A8 gene.
|
31222513 |
2019 |
|
rs1057518443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage.
|
28817111 |
2018 |
|
rs1057524792
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage.
|
28817111 |
2018 |
|
rs1131692040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.K78E substitution appears to be associated with severe microcephaly, seizures, hearing loss, growth retardation, cardiac defects, and dysmorphic facial features.
|
29066376 |
2018 |
|
rs132630298
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mice harboring the patient-specific C99F mutation display deficits in cognitive functions, emotionality, and social behavior, as well as reduced threshold to seizures.
|
30403997 |
2018 |
|
rs1553709380
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Early manifestations, observed in all patients, were developmental delay and febrile seizures, evolving to encephalopathy with profound delay, hypotonic/dyskinetic quadriparesis and intractable multiple seizure types in two patients (p.Pro27Arg, p.Asp100Tyr), and to moderate delay with milder epilepsy in the other two (p.Asp349Asn, p.Asp371Gly).
|
29668857 |
2018 |
|
rs1800497
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphism DRD4_VNTR was associated with family history of epilepsy (P = 0.003), DRD2_rs1800497 was related to status epilepticus (P = 0.022), and intron 8 VNTR DAT was related to higher seizure frequency (P = 0.019) and family history of epilepsy (P = 0.011).
|
29575277 |
2018 |
|
rs200396597
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.
|
30309378 |
2018 |
|
rs371753097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.
|
30309378 |
2018 |
|
rs53576
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our aim was to evaluate the influence of two polymorphisms (rs1042778, rs53576) at the oxytocin receptor gene (OXTR) on ASD diagnosis and on specific ASD-related clinical symptoms (seizures, panic, and aggressive behaviors).
|
29858823 |
2018 |
|
rs587776703
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We now report a novel heterozygous SCN8A variant, p.Pro1719Arg, in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment.
|
29726066 |
2018 |
|
rs6295
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, the good-fitting SEM, adjusting for confounding variables (e.g., age and PSS levels), revealed a significant pathway linking rs6295 variant to BAI scores via HF index modulation.
|
29363117 |
2018 |
|
rs63751438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutations in the microtubule associated protein tau (MAPT) gene have been found to cause familial FTD and PSP, while the P301S mutation in MAPT has been associated with early-onset fast progressive dementia and the presence of seizures.
|
29621183 |
2018 |
|
rs751866383
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage.
|
28817111 |
2018 |
|
rs761188359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Knock-in mice displayed reduced M-current suppression when challenged by a muscarinic agonist, oxotremorine-M. Kv7.2(S559A) mice were resistant to chemoconvulsant-induced seizures with no mortality.
|
30146722 |
2018 |