About: Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy

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An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy
Creator	Israelian, Lori Ruggieri, Alessandra Walker, Susan Wang, Peixiang Alkhater, Reem Minassian, Berge Scherer, Stephen Smith, Mary
Source	Medline; PMC
abstract	Mis‐secreted glycoproteins (LGI1, reelin) are emerging causes of epilepsy. LMAN2L belongs to a glycoprotein secretion chaperone family. One recessive LMAN2L missense mutation predicted to impair the chaperone's interaction with glycoproteins was reported in a family with intellectual disability (ID) and remitting epilepsy. We describe four members of a family with autosomal dominant inheritance of a similar phenotype. We show that they segregate a NM_001142292.1:c.1073delT mutation that eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane. LMAN2L mislocalization, like impaired glycoprotein interaction, disturbs brain development, including generation of developmentally restricted epilepsy.
has issue date	2019-03-07(xsd:dateTime)
bibo:doi	10.1002/acn3.727
bibo:pmid	31020005
has license	cc-by-nc-nd
sha1sum (hex)	471aa6c890ce013986b2f55f65bde5b06615f456
schema:url	https://doi.org/10.1002/acn3.727
resource representing a document's title	Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy
has PubMed Central identifier	PMC6469342
has PubMed identifier	31020005
schema:publication	Ann Clin Transl Neurol
resource representing a document's body	covid:471aa6c890ce013986b2f55f65bde5b06615f456#body_text
is schema:about of	named entity 'DESCRIBE' named entity 'REMITTING' named entity 'FAMILY' named entity 'CAUSES' named entity 'ENDOPLASMIC RETICULUM RETENTION SIGNAL' named entity 'GENERATION' named entity 'REELIN' named entity 'LIKE' named entity 'SEGREGATE' named entity 'COMPARTMENT' named entity 'IMPAIRED' named entity 'PREDICTED' named entity 'intellectual disability' named entity 'recessive' named entity 'family' named entity 'secretion' named entity 'endoplasmic reticulum' named entity 'mutation' named entity 'CAUSES' covid:arg/471aa6c890ce013986b2f55f65bde5b06615f456 named entity 'BRAIN DEVELOPMENT' named entity 'CHAPERONE' named entity 'EPILEPSY' named entity 'REMITTING' named entity 'LMAN2L' named entity 'PHENOTYPE' named entity 'GLYCOPROTEIN SECRETION' named entity 'REPORTED' named entity 'INCLUDING' named entity 'MEMBERS' named entity 'GLYCOPROTEIN' named entity 'IMPAIR' named entity 'PLASMA MEMBRANE' named entity 'LMAN2L' named entity 'INTERACTION' named entity 'RECESSIVE' named entity 'MUTATION' named entity 'EPILEPSY' named entity 'DOMINANT' named entity 'INTELLECTUAL DISABILITY' named entity 'AUTOSOMAL DOMINANT INHERITANCE' named entity 'MUTATION' named entity 'MIS' named entity 'MISSENSE MUTATION' named entity 'SECRETED' named entity '27S' named entity 'SIMILAR' named entity 'INTELLECTUAL DISABILITY' named entity 'GLYCOPROTEINS' named entity 'PROTEIN ' named entity 'RESTRICTED' named entity 'phenotype' named entity 'segregate' named entity 'predicted' named entity 'protein' named entity 'brain development' named entity 'mutation' named entity 'phenotype' named entity 'epilepsy' named entity 'glycoprotein' named entity 'endoplasmic reticulum' named entity 'epilepsy' named entity 'plasma membrane' named entity 'family' named entity 'epilepsy' named entity 'glycoproteins' named entity 'protein' named entity 'ERGIC-53' named entity 'glycoproteins' named entity 'reelin' named entity 'neurological' named entity 'extracellular' named entity 'seizures' named entity 'tremor'

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