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    Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
    (Wiley-Liss, 2007) Güzel, Aslan; Tatlı, Mehmet; Bilgüvar, Kaya; DiLuna, Michael L.; Bakkaloğlu, Betül; Öztürk, Ali K.; Bayraklı, Fatih
    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.
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    The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15
    (Wiley, 2009) Bilgüvar, Kaya; Öztürk, Ali Kemal; Bayraklı, Fatih; Güzel, Aslan; DiLuna, Michael L.; Bayri, Yaşar; Tatlı, Mehmet; Tekeş, Selahattin; 0000-0003-1707-6055
    Recently, we delineated a syndrome of pachygyria, mentalimpairment, seizures, and arachnoid cysts [Guzel et al., 2007].This syndrome was found in a consanguineous family fromSoutheastern Turkey. The three affected sibs in this family werethe first generation to present with this condition, strongly suggest-ing autosomal recessive inheritance.