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Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R. Guerrini R, et al. Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7. Seizure. 2002. PMID: 12185771 Review.
However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria …
However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detec …
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R. Guerrini R, et al. Seizure. 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. Seizure. 2001. PMID: 11749114 Free article. Review.
However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria …
However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detec …
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. Piao X, et al. Ann Neurol. 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. Ann Neurol. 2005. PMID: 16240336
Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). ...Finally, we studied seven patients with a variety of o …
Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently di …