Associated Papers
Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.
Sunnetci-Akkoyunlu D et al.
Genes, 2025
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.
Kava H et al.
Frontiers in Pediatrics, 2025
Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.
Yarali O et al.
Journal of Neurogenetics, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Turkdogan D et al.
The International Journal of Neuroscience, 2023
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_1_pV_lpV_variants
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.
Havali C et al.
Neurological Research, 2021
Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.
Banne E et al.
Cells, 2021
WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.
Aldaz CM et al.
International Journal of Molecular Sciences, 2020
33255508 (PubMed )
Supplement: ijms-21-08922-s001.zip › IJMS_review-CMA_and_TH › Supplementray_Table_1.xlsx › Sheet1
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.
Iacomino M et al.
Frontiers in Neuroscience, 2020
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation.
Serin HM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
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