Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.
Wallace
R H
RH
Queensland Brain Institute, University of Queensland, Brisbane, QLD, 4072 Australia. r.wallace2@uq.edu.au
Freeman
J L
JL
Shouri
M R
MR
Izzillo
P A
PA
Rosenfeld
J V
JV
Mulley
J C
JC
Harvey
A S
AS
Berkovic
S F
SF
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004828:Epilepsies, Partial / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D005973:Glutamine / Q000235:genetics; D006222:Hamartoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007027:Hypothalamic Diseases / Q000235:genetics* / Q000473:pathology; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods; D009419:Nerve Tissue Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational / Q000235:genetics*; D000074290:Zinc Finger Protein Gli3
C065683:GLI3 protein, human; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D000074290:Zinc Finger Protein Gli3; D005973:Glutamine