Somatic mutations in GLi3 can cause hypothalamic hamartoma and gelastic seizures

Neurology

Volumn 70, Issue 8, 2008, Pages 653-655

  Wallace, R H ^a   Freeman, J L ^b,c   Shouri, M R ^d   Izzillo, P A ^e   Rosenfeld, J V ^b   Mulley, J C ^e,f   Harvey, A S ^b,c   Berkovic, S F ^b,c  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^f UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE DISTRIBUTION; ARTICLE; BRAIN THIRD VENTRICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; GELASTIC SEIZURE; GENE MUTATION; HAMARTOMA; HUMAN; HYPOTHALAMUS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOMATIC MUTATION;

EID: 39749151073     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000284607.12906.c5     Document Type: Article

References (5)

1. Kang S, Graham JM, Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997;15:266-268.
2. Villavicencio EH, Walterhouse DO, Iannaccone PM. The sonic hedgehog-patched-gli pathway in human development and disease. Am J Hum Genet 2000;67:1047-1054.
3. Harvey AS, Freeman JL, Berkovic SF, Rosenfeld JV. Transcallosal resection of hypothalamic hamartomas in patients with intractable epilepsy. Epileptic Disord 2003;5:257-265.
4. Shin SH, Kogerman P, Lindstrom E, et al. GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc Natl Acad Sci USA 1999;96:2880-2884.
5. Bose J, Grotewold L, Ruther U. Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet 2002;11:1129-1135.