GNAO1 encephalopathy: Further delineation of a severe neurodevelopmental syndrome affecting females

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Marcé Grau, Anna ^a   Dalton, James ^a   López Pisón, Javier ^b   García Jiménez, María Concepción ^b   Monge Galindo, Lorena ^b   Cuenca León, Ester ^a   Giraldo, Jesús ^a   Macaya, Alfons ^a,c  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Early infantile epileptic encephalopathy; Exome sequencing; GNAO1; Ketogenic diet

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; GNAO1 PROTEIN, HUMAN; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; DISEASE SEVERITY; DYSKINESIA; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; GNAO1 GENE; HUMAN; KETOGENIC DIET; MENTAL DISEASE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; SEIZURE; SEQUENCE HOMOLOGY; STRUCTURE ANALYSIS; WHOLE EXOME SEQUENCING; ADULT; BRAIN; EXOME; GENETICS; METABOLISM; MOLECULAR DYNAMICS; PATHOLOGY; YOUNG ADULT;

ADULT; BRAIN; BRAIN DISEASES; EXOME; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HUMANS; MAGNETIC RESONANCE IMAGING; MOLECULAR DYNAMICS SIMULATION; YOUNG ADULT;

EID: 84994463067     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0416-0     Document Type: Article

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