Novel PIGT variant in two brothers: Expansion of the multiple congenital anomalies-hypotonia seizures syndrome 3 phenotype

Genes

Volumn 7, Issue 12, 2016, Pages

  Skauli, Nadia ^a,b   Wallace, Sean ^a   Chiang, Samuel C C ^c   Barøy, Tuva ^a,b   Holmgren, Asbjørn ^a,b   Stray Pedersen, Asbjørg ^a   Bryceson, Yenan T ^c   Strømme, Petter ^a,b   Frengen, Eirik ^a,b   Misceo, Doriana ^a,b  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Cerebellar atrophy; Craniofacial dysmorphism; Developmental delay; Epilepsy; GPI anchors; MCAHS3; PIGT

Indexed keywords

ANTICONVULSIVE AGENT; GLYCINE; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; VALINE;

ARTICLE; ATAXIA; BAYLEY SCALES OF INFANT DEVELOPMENT; BRAIN DYSFUNCTION; CASE REPORT; CELL SURFACE; CEREBELLUM ATROPHY; CHILD; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; EPILEPSY; FACE DYSMORPHIA; GENE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; KETOGENIC DIET; MALE; MULTIPLE CONGENITAL ANOMALIES HYPOTONIA SEIZURE SYNDROME 3; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PIGT GENE; PRESCHOOL CHILD; PYRAMIDAL SIGN; SCHOOL CHILD; SEIZURE; SPASTICITY; TONIC CLONIC SEIZURE; TONIC SEIZURE;

EID: 85003671289     PISSN: None     EISSN: 20734425     Source Type: Journal    
DOI: 10.3390/genes7120108     Document Type: Article

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