Sinan Comu

Publications (2)5.76 Total impact

• Article: An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.

  Ozlem Yalçin, Betül Baykan, Kadriye Ağan, Zuhal Yapici, Destina Yalçin, Gülşen Dizdarer, Dilşad Türkdoğan, Ciğdem Ozkara, Aycan Unalp, Derya Uludüz, Günay Gül, Demet Kuşcu, Semih Ayta, Kemal Tutkavul, Sinan Comu, Burak Tatli, Cihan Meral, Nerses Bebek, Server Hande Cağlayan
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  ABSTRACT: To further evaluate the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing eight genes with expressions in the brain was targeted in a case-control association study involving 205 Turkish patients with AE and 219 controls. Haplotype block and case-control association analysis was carried out using HAPLOVIEW 4.0 and inhibin alpha subunit (INHA) gene analysis by DNA sequencing. An association was found between the G allele of rs7588807 located in the INHA gene and juvenile absence epilepsy (JAE) syndrome and patients having generalized tonic-clonic seizures (GTCS) with p-values of 0.003 and 0.0002, respectively (uncorrected for multiple comparisons). DNA sequence analysis of the INHA gene in 110 JAE/GTCS patients revealed three point mutations with possible damaging effects on inhibin function in three patients and the presence of a common ACTC haplotype (H1) with a possible dominant protective role conferred by the T allele of rs7588807 with respective p-values of 0.0005 and 0.0014. The preceding findings suggest that INHA could be a novel candidate susceptibility gene involved in the pathogenesis of JAE or AE associated with GTCS.
  Epilepsia 02/2011; 52(5):975-83. · 3.96 Impact Factor
• Article: Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts.

  Cengiz Yalçinkaya, Adnan Yüksel, Sinan Comu, Gülhatun Kiliç, Ozlem Cokar, Ayşin Dervent
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  ABSTRACT: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a disorder characterised by acquired macrocephaly, developmental motor delay of varying degrees, slowly progressive cerebellar and pyramidal signs, and initially preserved intellectual function. More than 60% of the published cases had epileptic seizures. In this study, we analysed the seizures and EEG findings of nine patients with MLC. Six patients (66.6%) with moderate to severe neurological impairment had epilepsy, four with partial and two with generalised seizures. The EEG of five epileptic patients revealed epileptogenic foci over the temporal, frontal and parietal regions with variable predominance during waking and sleep. The facilitation of spike-and-wave paroxysms by eye closure, by intermittent photic stimulation and by hyperventilation were determined in four patients. Four patients also showed abnormalities in the background activity. In conclusion, we think that epilepsy is a significant component of MLC compared to the other leukodystrophies. The elucidation of the underlying molecular defect may explain the unusual pathogenetic relation between this leukoencephalopathy and the associated seizures.
  Seizure 10/2003; 12(6):388-96. · 1.80 Impact Factor