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38 results on '"Dervent, Aysin"'

4. Challenges in diagnosing SSPE

Author

Erturk, Ozdem, Karslıgil, Beyhan, Cokar, Ozlem, Yapıcı, Zuhal, Demirbilek, Veysi, Gurses, Candan, Yalcinkaya, Cengiz, Gokyigit, Aysen, Direskeneli, Guher Saruhan, Yentur, Sibel, Onal, Emel, Yılmaz, Gulden, and Dervent, Aysin

Published
2011
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6. A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C.

Author

ALTINDAĞ, Ebru, ALANAY, Yasemin, BAYKAN, Betul, and DERVENT, Aysin

Subjects
NIEMANN-Pick diseases, ELECTROENCEPHALOGRAPHY, PIPERIDINE, NEUROBEHAVIORAL disorders, MAGNETIC resonance imaging, EPILEPSY, SEIZURES (Medicine), COGNITION disorders, PSYCHOSES, GENETIC mutation, DRUG resistance, SEQUENCE analysis, GENETIC testing, DISEASE complications, SYMPTOMS
Abstract

The article offers information on Niemann-Pick Disease Type C (NPC), a rare genetic disorder. Topics include the neuropsychiatric involvement and drug-resistant focal epilepsy associated with NPC, the importance of genetic diagnosis and treatment options such as miglustat, and the need to raise awareness for early detection and intervention in NPC cases.

Published
2024
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7. A Novel X-linked Disorder with Developmental Delay and Autistic Features

Author

Kaya, Namik, Colak, Dilek, Albakheet, Albandary, Al-Owain, Mohammad, Abu-Dheim, Nada, Al-Younes, Banan, Al-Zahrani, Jawaher, Mukaddes, Nahit M., Dervent, Aysin, Al-Dosari, Naji, Al-Odaib, Ali, Kayaalp, Inci V., Al-Sayed, Moeenaladin, Al-Hassnan, Zuhair, Nester, Michael J., Al-Dosari, Mohammad, Al-Dhalaan, Hesham, Chedrawi, Aziza, Gunoz, Hulya, Karakas, Bedri, Sakati, Nadia, Alkuraya, Fowzan S., Gascon, Generaso G., and Ozand, Pinar T.

Published
2012
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9. Autonomic Status Epilepticus in Panayiotopoulos Syndrome and Other Childhood and Adult Epilepsies: A Consensus View

Author

Ferrie, Colin D, Caraballo, Roberto, Covanis, Athanasios, Demirbilek, Veysi, Dervent, Aysin, Fejerman, Natalio, Fusco, Lucia, Grünewald, Richard A., Kanazawa, Osamu, Koutroumanidis, Michael, Lada, Christina, Livingston, John H, Nicotra, Alessia, Oguni, Hirokazu, Martinovic, Zarko, Nordli, Douglas R, Jr, Parisi, Pasquale, Scott, Rod C., Specchio, Nicola, Verrotti, Alberto, Vigevano, Federico, Walker, Matthew C., Watanabe, Kazuyoshi, Yoshinaga, Harumi, and Panayiotopoulos, Chrysostomos P

Published
2007

20. The rare rs769301934 variant in NHLRC1is a common cause of Lafora disease in Turkey

Author

Haryanyan, Garen, Ozdemir, Ozkan, Tutkavul, Kemal, Dervent, Aysin, Ayta, Semih, Ozkara, Cigdem, Salman, Baris, Yucesan, Emrah, Kesim, Yesim, Susgun, Seda, Ozbek, Ugur, Baykan, Betul, Ugur Iseri, Sibel A., and Bebek, Nerses

Abstract

Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2Aor NHLRC1, which encode laforin and malin, respectively. The disease usually starts with adolescent onset seizures followed by progressive dementia, refractory status epilepticus and eventually death within 10 years of onset. LD is generally accepted as having a homogenous clinical course with no considerable differences between EPM2Aor NHLRC1associated forms. Nevertheless, late-onset and slow progressing forms of the disease have also been reported. Herein, we have performed clinical and genetic analyses of 14 LD patients from 12 different families and identified 8 distinct biallelic variations in these patients. Five of these variations were novel and/or associated with the LD phenotype for the first time. Interestingly, almost half of the cases were homozygous for the rare rs769301934 (NM_198586.3(NHLRC1): c.436 G > A; p.(Asp146Asn)) allele in NHLRC1. A less severe phenotype with an onset at a later age may be the reason for the biased inflation of this variant, which is already present in the human gene pool and can hence arise in the homozygous form in populations with increased parental consanguinity.

Published
2021
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26. A Close Look at EEG in Subacute Sclerosing Panencephalitis

Author

Demir, Nurhak, primary, Cokar, Ozlem, additional, Bolukbasi, Feray, additional, Demirbilek, Veysi, additional, Yapici, Zuhal, additional, Yalcinkaya, Cengiz, additional, Direskeneli, Guher Saruhan, additional, Yentur, Sibel, additional, Onal, Emel, additional, Yilmaz, Gulden, additional, and Dervent, Aysin, additional

Published
2013
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27. A novel X‐linked disorder with developmental delay and autistic features

Author

Kaya, Namik, primary, Colak, Dilek, additional, Albakheet, Albandary, additional, Al‐Owain, Mohammad, additional, Abu‐Dheim, Nada, additional, Al‐Younes, Banan, additional, Al‐Zahrani, Jawaher, additional, Mukaddes, Nahit M., additional, Dervent, Aysin, additional, Al‐Dosari, Naji, additional, Al‐Odaib, Ali, additional, Kayaalp, Inci V., additional, Al‐Sayed, Moeenaladin, additional, Al‐Hassnan, Zuhair, additional, Nester, Michael J., additional, Al‐Dosari, Mohammad, additional, Al‐Dhalaan, Hesham, additional, Chedrawi, Aziza, additional, Gunoz, Hulya, additional, Karakas, Bedri, additional, Sakati, Nadia, additional, Alkuraya, Fowzan S., additional, Gascon, Generaso G., additional, and Ozand, Pinar T., additional

Published
2011
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28. Four Novel SCN1A Mutations in Turkish Patients With Severe Myoclonic Epilepsy of Infancy (SMEI)

Author

Arlier, Zulfikar, primary, Bayri, Yasar, additional, Kolb, Luis E., additional, Erturk, Ozdem, additional, Ozturk, Ali K., additional, Bayrakli, Fatih, additional, Bilguvar, Kaya, additional, Moliterno, Jennifer A., additional, Dervent, Aysin, additional, Demirbilek, Veysi, additional, Yalcinkaya, Cengiz, additional, Korkmaz, Baris, additional, Tuysuz, Beyhan, additional, and Gunel, Murat, additional

Published
2010
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30. Panayiotopoulos syndrome: a consensus view

Author

Ferrie, Colin, primary, Caraballo, Roberto, additional, Covanis, Athanasios, additional, Demirbilek, Veysi, additional, Dervent, Aysin, additional, Kivity, Sara, additional, Koutroumanidis, Michael, additional, Martinovic, Zarko, additional, Oguni, Hirokazu, additional, Verrotti, Alberto, additional, Vigevano, Federico, additional, Watanabe, Kazuyoshi, additional, Yalcin, Despina, additional, and Yoshinaga, Harami, additional

Published
2006
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35. A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).

Author

Yalcin, Ozlem, Caglayan, S. Hande, Saltik, Sema, Cokar, Ozlem, Agan, Kadriye, Dervent, Aysin, and Steinlein, Ortrud K.

Abstract

Benign familial neonatal convulsions (BFNC) is a rare monogenic subtype of idiopathic epilepsy exhibiting autosomal dominant mode of inheritance. The disease is caused by mutations in the two homologous genes KCNQ2 and KCNQ3 that encode the subunits of the voltage-gated potassium channel. Most KCNQ2 mutations are found in the pore region and the cytoplasmic C domain. These mutations are either deletions/insertions that result in frameshift or truncation of the protein product, splice-site variants or missense mutations. This study reveals a novel missense mutation (N258S) in the KCNQ2 gene between the S5 domain and the pore of the potassium channel in two BFNC patients in a Turkish family. The absence of the mutation both in the healthy members of the family and in a control group, and the lack of any other change in the KCNQ2 gene of the patients indicate that N258S substitution is a pathogenic mutation leading to epileptic seizures in this family. [ABSTRACT FROM AUTHOR]

Published
2007

38. Epilepsy Surgery in Children with Lesional Partial Epilepsies.

Author

Erturk O, Ozkara C, Yalcinkaya C, Dervent A, Yeni SN, Demirbilek V, Unver O, Uysal S, Ozyurt E, and Uzan M

Subjects
Adolescent, Child, Child, Preschool, Epilepsies, Partial complications, Female, Humans, Infant, Male, Retrospective Studies, Seizures etiology, Treatment Outcome, Epilepsies, Partial surgery
Abstract

Aim: Surgery for epilepsy is a significant treatment alternative with favorable outcomes in the pediatric age group. In this study we present the surgical outcomes of pediatric population referred to our center., Material and Methods: The clinical data of 126 patients (≤18 years) with lesional partial epilepsies operated in our center between 1995- 2011 were evaluated retrospectively. Parameters investigated were gender, age at seizure onset, duration of epilepsy, etiology, type and location of operation and outcome. Seizure outcome was classified according to Engel's classification., Results: The study group consisted of 70 males (55,6%) and 56 females (44.4%). The most common etiology was malformation of cortical development followed by tumors and hippocampal sclerosis. Overall 73.8% of patients had Engel I, 13.5% Engel II and 11.9% Engel III+IV postoperative seizure outcome., Conclusion: The results of our pediatric patients who underwent surgery were similar to previous reports in the literature. The seriousness of the clinical picture should tempt physicians to refer the patients as soon as possible to avoid long term complications like epileptic encephalopathies and the side effects of antiepileptic drugs during the development of the young brains.

Published
2015
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