A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

Neurogenetics

Volumn 16, Issue 3, 2015, Pages 215-221

  Damseh, Nadirah ^a   Danson, Chris M ^b   Al Ashhab, Motee ^a   Abu Libdeh, Bassam ^a   Gallon, Matthew ^b   Sharma, Kanchan ^c   Yaacov, Barak ^d   Coulthard, Elizabeth ^c   Caldwell, Maeve A ^b   Edvardson, Simon ^d   Cullen, Peter J ^b   Elpeleg, Orly ^d  

^a Makassed Islamic Hospital   (Israel)

^b UNIVERSITY OF BRISTOL   (United Kingdom)

^c SOUTHMEAD HOSPITAL   (United Kingdom)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Myoclonic epilepsy; Retromer complex; SNX27

Indexed keywords

AMPA RECEPTOR; ANTICONVULSIVE AGENT; GLUTAMATE RECEPTOR; IONOTROPIC RECEPTOR; MEMBRANE PROTEIN; MUTANT PROTEIN; PROTEIN SNX27; RECEPTOR SUBUNIT; SORTING NEXIN; UNCLASSIFIED DRUG; SNX27 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE COURSE; ENDOSOME; EXOME; FAMILY; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; INFANCY; INFANT; INFANT DISEASE; INFANTILE MYOCLONIC EPILEPSY; KNOCKOUT MOUSE; MALE; MYOCLONUS EPILEPSY; NERVE DEGENERATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR DEVELOPMENT; BRAIN; DEFICIENCY; DEGENERATIVE DISEASE; GENETICS; METABOLISM; MUTATION; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE;

BRAIN; EPILEPSIES, MYOCLONIC; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEURODEGENERATIVE DISEASES; PEDIGREE; SORTING NEXINS;

EID: 84931575624     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-015-0446-0     Document Type: Article

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