Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
Yükleniyor...
Tarih
2007
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley-Liss
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
We report on an apparently new syndrome in a consanguineous family with seven members, three of whom have cerebral anomalies including pachygyria and arachnoid cysts along with mental retardation and seizures. The two patients with seizure disorders also had multiple enlarged perivascular spaces seen in the white matter of the centrum semiovale. Our data provide a contribution to the acacumulating knowledge on familial cerebral anomalies including arachnoid cysts and lissencephaly. Given the lack of mutation in known lissencephaly genes such as LIS1, 14-3-3 epsilon, and DCX, this syndrome may constitute a new phenotype with autosomal recessive inheritance.(c) 2007 Wiley-Liss, Inc.
Açıklama
Anahtar Kelimeler
Lissencephaly, Genetics, Arachnoid cysts, Mental retardation, Pachygyria, Neuronal migration defects, Pachygyria, Seizures
Kaynak
American Journal of Medical Genetics Part A
WoS Q Değeri
Q3
Scopus Q Değeri
Q3
Cilt
143A
Sayı
7
Künye
Güzel, A., Tatlı, M., Bilgüvar, K., DiLuna, M. L., Bakkaloğlu, B., Öztürk, A. K. ve diğerleri. (2007). Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. American Journal of Medical Genetics, Part A, 143(7), 672-677.
