Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

Human Molecular Genetics

Volumn 26, Issue 9, 2017, Pages 1706-1715

  Johnstone, Devon L ^a   Nguyen, Thi Tuyet Mai ^b   Murakami, Yoshiko ^c   Kernohan, Kristin D ^a   Tétreault, Martine ^d   Goldsmith, Claire ^a   Doja, Asif ^a   Wagner, Justin D ^a   Huang, Lijia ^a   Hartley, Taila ^a   St Denis, Anik ^b   Le Deist, Francoise ^b   Majewski, Jacek ^d   Bulman, Dennis E ^a   Kinoshita, Taroh ^c   Dyment, David A ^a   Boycott, Kym M ^a   Campeau, Philippe M ^b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c OSAKA UNIVERSITY   (Japan)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; FOLINIC ACID; GABAPENTIN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; LEVETIRACETAM; PHENOBARBITAL; PREDNISOLONE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; GLYCOSYLPHOSPHATIDYLINOSITOL; GLYCOSYLTRANSFERASE; MEMBRANE PROTEIN; PIGP PROTEIN, HUMAN;

ABDUCTION; ANTICONVULSANT THERAPY; APNEA; ARTICLE; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; CHILD NUTRITION; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); CLONUS; COMBINATION DRUG THERAPY; COMPLEX PARTIAL SEIZURE; CORPUS CALLOSUM; CORTICOSTEROID THERAPY; CYANOSIS; DRUG RESISTANT EPILEPSY; DYSPNEA; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; EXON; FEEDING APPARATUS; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERREFLEXIA; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; JOINT CONTRACTURE; JOINT LAXITY; MALE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEONATAL INTENSIVE CARE UNIT; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOGYRIC CRISIS; PLAGIOCEPHALY; PRIORITY JOURNAL; RECURRENT ASPIRATION; REPEAT PROCEDURE; START CODON; TIC; VISUAL IMPAIRMENT; WHOLE EXOME SEQUENCING; ADULT; CELL LINE; DEFICIENCY; DEVELOPMENTAL DISORDER; GENETICS; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PEDIGREE; SEIZURE;

ABNORMALITIES, MULTIPLE; ADULT; CELL LINE; CHILD; DEVELOPMENTAL DISABILITIES; GLYCOSYLPHOSPHATIDYLINOSITOLS; HEMOGLOBINURIA, PAROXYSMAL; HEXOSYLTRANSFERASES; HUMANS; INTELLECTUAL DISABILITY; MEMBRANE PROTEINS; MUSCLE HYPOTONIA; MUTATION; PEDIGREE; SEIZURES; SPASMS, INFANTILE;

EID: 85019128038     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddx077     Document Type: Article

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