A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family

Journal of the Neurological Sciences

Volumn 371, Issue , 2016, Pages 121-125

  Naseer, Muhammad Imran ^a   Rasool, Mahmood ^a   Jan, Mohammed M ^b   Chaudhary, Adeel G ^a   Pushparaj, Peter Natesan ^a   Abuzenadah, Adel M ^a   Al Qahtani, Mohammad H ^a  

^a KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^b Aziz University   (Saudi Arabia)

Author keywords

Developmental delay; Epilepsy; Intellectual disability; Microcephaly; PGAP2

Indexed keywords

ALANINE; GLYCOSYLPHOSPHATIDYLINOSITOL; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; VALINE; NUCLEAR PROTEIN; PGAP2 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONSANGUINITY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPSY; EXOME; FEMALE; GENE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MISSENSE MUTATION; PGAP2 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SAUDI; SEQUENCE ANALYSIS; SIBLING; WHOLE EXOME SEQUENCING; BRAIN; FAMILY; GENETICS; METABOLISM; PATHOPHYSIOLOGY; SAUDI ARABIA;

BRAIN; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; FAMILY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION, MISSENSE; NUCLEAR PROTEINS; SAUDI ARABIA;

EID: 84994635723     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2016.10.027     Document Type: Article

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