Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
about
Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practicePathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesKICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1SZT2 dictates GATOR control of mTORC1 signalling.Genes predict long distance migration and large body size in a migratory fish, Pacific lampreyAn amino acid deletion inSZT2 in a family with non-syndromic intellectual disabilityTargeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis.Lessons learned from gene identification studies in Mendelian epilepsy disorders.mTOR Signaling in Growth, Metabolism, and Disease.Lysosomal Regulation of mTORC1 by Amino Acids in Mammalian Cells.Toward routine genetics-based diagnoses for the epileptic encephalopathies.Genomic signatures of local adaptation reveal source-sink dynamics in a high gene flow fish species.Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.Neuronal lysosomes.Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development
P2860
Q26777746-6BB9849E-27BE-418D-ACE8-52750E085618Q27308052-CE74C2E3-72C6-4A5E-A8A6-4DC1AB43BEE1Q28975621-4AF2C683-60F4-4152-9DF6-E6D8DE21ECBAQ29465796-463DACF6-9BBB-4C86-B283-633A6F2B93AEQ34764125-7CD09422-B20D-4010-92A0-2BDDB8FFB230Q35064308-14C61C35-8FE8-48BC-916A-FA996B9A71BFQ37257128-A8219DCE-5F83-428E-B777-FCFB660DADDAQ37626490-7EAEE577-BF3C-4265-8DDE-1B8819246AFBQ38646965-CEA45ACC-720F-4EBA-BA2B-185833C2A85EQ38747508-6BAA25F3-A450-4A14-B115-F41F476DBB5DQ39420775-CC1FC99C-BE05-4DDA-8814-BF4CE08BE4EAQ40053862-C7499587-B0F6-455A-9119-B88E4F5E1EEBQ41447161-D0A2B3F2-026E-42CF-8C92-D6A45A02EDD4Q41919654-F71B48E6-94BE-4E02-A3CD-A41CC091A444Q52601345-3D53F744-7B4A-4E75-9A8E-DB4407E16969Q57073696-74A4A3CE-EA4C-439C-B180-15C465D0CF21
P2860
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
name
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@ast
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@en
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@en-gb
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@nl
type
label
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@ast
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@en
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@en-gb
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@nl
prefLabel
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@ast
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@en
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@en-gb
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@nl
P2093
P2860
P50
P3181
P1476
Biallelic SZT2 mutations cause ...... and dysmorphic corpus callosum
@en
P2093
Alfons Macaya
Doron Gothelf
Dvir Dahary
Eli Heyman
Guntram Borck
Harald Bode
Holger Thiele
Irina Lagovsky
Liora Kornreich
P2860
P3181
P356
10.1016/J.AJHG.2013.07.005
P407
P50
P577
2013-09-05T00:00:00Z