Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In this Opinion, we report and discuss recent findings on LETM1 structure, essentiality, and function and its involvement in Wolf-Hirschhorn syndrome (WHS) and seizures.
|
31101453 |
2019 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
We found that JIP3 was markedly increased in TLE patients and a mouse model of epileptic seizures; mice underexpressing JIP3 through lentivirus bearing LV-Letm1-RNAi showed decreased susceptibility, delayed first seizure and decreased seizure duration response to the epileptogenic properties of KA.
|
26002316 |
2015 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Haploinsufficiency of LETM1, which encodes a mitochondrial inner-membrane protein functioning in ion transport, has been proposed as an underlying pathomechanism, principally for seizures but also for other core features of WHS, including growth and motor delay.
|
24626991 |
2014 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Behavioral study revealed that inhibition of Letm1 caused early onset of the first seizure, increased seizure frequency, and duration.
|
23645710 |
2014 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Two of these, encompassing LETM1, were found in subjects who never had seizures.
|
24738919 |
2014 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
We conclude that loss of Letm1 contributes to the pathology of Wolf-Hirschhorn syndrome in humans and may contribute to seizure phenotypes by reducing glucose oxidation and other specific metabolic alterations.
|
23716663 |
2013 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
LETM1 is the best candidate gene for seizures, the strongest haploinsufficiency phenotype of WHS patients.
|
20026556 |
2010 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Characterization of these patients supports the hypothesis that a gene in WHSCR-2, LETM1, plays a direct role in seizure development, and demonstrates that components of the WHS phenotype can be seen with deletions distal to the known boundaries of the two proposed critical regions.
|
17696124 |
2007 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
LETM1 is deleted in almost all patients with the full phenotype and has recently been suggested as an excellent candidate gene for the seizures in WHS patients.
|
14706454 |
2004 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
LETM1 is deleted in almost all patients with the full phenotype and has recently been suggested as an excellent candidate gene for the seizures in WHS patients.
|
14706454 |
2004 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Thus, manifestations attributable to this deletion are reduced weight for height, minor facial anomalies, ADHD and some learning and fine motor deficiencies, while seizures may be associated with deletions of LETM1.
|
11252005 |
2001 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|