Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

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http://www.wikidata.org/entity/Q40866479
New Insights into Reelin-Mediated Signaling PathwaysEpigenetic RELN Dysfunction in Schizophrenia and Related Neuropsychiatric DisordersReelin Regulates the Maturation of Dendritic Spines, Synaptogenesis and Glial Ensheathment of Newborn Granule Cells.Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.A Complex Interaction Between Reduced Reelin Expression and Prenatal Organophosphate Exposure Alters Neuronal Cell Morphology.Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.GATOR1 complex: the common genetic actor in focal epilepsies.The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)Familial mesial temporal lobe epilepsy and the borderland of déjà vu.RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
P2860

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

Item
http://www.wikidata.org/entity/Q40866479
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
@en
type
label
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
@en
prefLabel
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
@en
P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2015.04.020
P407
P433
P478
P50
P577
P5875
P698
P932