Epileptic encephalopathyGene: SLC1A2
changed rating from amber to green
6 Dec 2017, 4:54 p.m.
PMID:28915517 (2017) showed that mutations in SLC1A2 are related to epileptic seizures, SLC1A2-related epilepsy is not only caused by heterozygous de novo mutations but can also be inherited in an autosomal recessive fashion, and the genetic mechanism of autosomal dominant SLC1A2-related epileptic encephalopathy is other than haploinsufficiency.
6 Dec 2017, 4:52 p.m.
Comment on list classification: changed from amber to green, more than missense variants identified, a novel homozygous splicing variant PMD: 28915517. A mouse model also shows that complete lack of protein expression leads to a phenotype including epileptic encephalopathy, which is fatal in many cases PMIDs: 25834045; 9180080
6 Dec 2017, 3:48 p.m.
Comment on mode of inheritance: recent paper PMID:28915517 suggest that not only de novo mutations but also biallelic variants in SLC1A2 can cause epilepsy and that there is an additional autosomal recessive mode of inheritance.
6 Dec 2017, 3:40 p.m.
Four unrelated cases with Epileptic encephalopathy, early infantile, 41 (EIEE41) PMID: 27476654, 28777935. Gene added via ID panel update, this gene is more relevant on this panel. In vitro functional studies of the variants and studies of patient cells were not performed, but it has been postulated a toxic gain-of-function effect, perhaps related to glutamate toxicity (PMID:28777935). Only missense variants have been reported in OMIM.
6 Dec 2017, 3:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epileptic encephalopathy, early infantile, 41, 617105
This gene has been classified as Green List (High Evidence).
Publications for SLC1A2 were set to 27476654; 28777935; 23934111; 9180080; 28915517
Mode of inheritance for SLC1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
SLC1A2 was added to Epileptic encephalopathy panel. Sources: Literature
SLC1A2 was created by Louise Daugherty