Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 77-86

  Fleming, Leah ^a   Lemmon, Monica ^b   Beck, Natalie ^c,d   Johnson, Maria ^e   Mu, Weiyi ^c   Murdock, David ^a   Bodurtha, Joann ^c   Hoover Fong, Julie ^c,d   Cohn, Ronald ^f   Bosemani, Thangamadhan ^d   Barañano, Kristin ^b,g   Hamosh, Ada ^c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e UNIVERSITY OF MINNESOTA   (United States)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Congenital disorders of glycosylation; Epilepsy; Genotype phenotype association; Glycosylphosphatidylinositol anchors; GPI ethanolamine phosphate transferase 1; Human; Hypotonia; Infantile; Intractable; PIGN; Spasms

Indexed keywords

ALKALINE PHOSPHATASE; CORTICOSTEROID DERIVATIVE; ETIRACETAM; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; OXCARBAZEPINE; PROTEIN PIGN; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN; GLYCOSYLPHOSPHATIDYLINOSITOL ETHANOLAMINE PHOSPHATE TRANSFERASE 1, HUMAN; PHOSPHOTRANSFERASE;

ADOLESCENT; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLINICAL FEATURE; CONGENITAL MALFORMATION; DEATH; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPSY; FACE DYSMORPHIA; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENERALIZED EPILEPSY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HYPERTELORISM; HYPOTONIA SEIZURES SYNDROME; INTELLECTUAL IMPAIRMENT; KETOGENIC DIET; LABORATORY TEST; LONG PHILTRUM; LOSS OF FUNCTION MUTATION; MICROGNATHIA; MUSCLE HYPOTONIA; NAIL DISEASE; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PHALANX HYPOPLASIA; PHYSICAL EXAMINATION; PIGN GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; SEIZURE; SEQUENCE ANALYSIS; SIBLING; TOE MALFORMATION; ADULT; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; PROGNOSIS; SEIZURES; SYNDROME; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; MALE; MUSCLE HYPOTONIA; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOTRANSFERASES; PROGNOSIS; SEIZURES; SYNDROME; YOUNG ADULT;

EID: 84955710017     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37369     Document Type: Article

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