Publications by authors named "Turkan Uygur Sahin"
Article Synopsis
- PCH10, caused by mutations in the CLP1 gene, leads to serious brain anomalies, including progressive microcephaly and severe disabilities.
- In a study involving 10 patients over an average of 2.83 years, various neurological assessments showed significant spasticity differences between upper and lower extremities, with only some patients achieving basic motor skills like sitting.
- MRI results revealed various structural brain changes, including cerebellar and cortical atrophy, highlighting the progressive nature of PCH10 and emphasizing the need for early identification and ongoing monitoring of affected patients.
Article Synopsis
- The study focuses on mutations in the KCNMA1 gene, which is important for potassium channels that regulate neuronal activity, and links these mutations to various neurological disorders.
- A patient with a new homozygous mutation (p.Arg458Ter) is described, exhibiting both loss- and gain-of-function symptoms including paroxysmal dyskinesia, epilepsy, and developmental issues.
- This case adds to the understanding of KCNMA1 mutation effects by highlighting a unique phenotype with both neurological symptoms and spinal tract involvement.
Purpose: Mild neurocognitive disabilities are commonly observed in children with neurofibromatosis type 1 (NF-1). Enlargement of the corpus callosum (CC) is one of the findings in NF-1, but the pathogenesis has not yet been clarified. In this study, we investigated whether diffusion tensor imaging (DTI) features of CC differed between children with NF-1 and healthy control subjects, and we tried to evaluate the association between the microstructural integrity of CC and neurocognitive disabilities, based on apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values.
View Article and Find Full Text PDFEncephalitis is a complex neurological disease that is associated with significant morbidity and mortality, and the etiology of the disease is often not identified. Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. Few reports are available showing possible involvement of hMPV in development of neurologic complications.
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