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Author: search.filters.author.Alehan, FusunHas files: Yes

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    Early clinical predictors of intractable epilepsy in childhood
    (2014) Saygi, Semra; Erol, Ilknur; Alehan, Fusun
    Aim: In this retrospective study, we evaluated the clinical responses to antiepileptic drug (AED) therapy in pediatric epilepsy patients treated at a single center. Materials and methods: We identified 28 children with intractable epilepsy and 213 patients with drug-responsive epilepsy. Results: Univariate analysis showed that age at onset, high (daily) initial seizure frequency, infantile spasm, history of neonatal seizures, abnormal neurodevelopmental status, neurological abnormalities, mental retardation, remote symptomatic etiology, and abnormal brain imaging results were significant risk factors for the development of intractable epilepsy (P < 0.05). Multivariate logistic regression analysis revealed that high (daily) initial seizure frequency and remote symptomatic etiology were significant and independent risk factors for intractable epilepsy (P < 0.05). Conclusion: Our study suggests that the risk of developing intractable epilepsy in childhood may be predicted, to some extent, by the early clinical course. Early identification of patients at high risk of developing intractable epilepsy will guide appropriate therapy and reduce exposure to ineffectual treatments.
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    22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation
    (2015) Erol, Ilknur; Onay, Ozge Surmeli; Yilmaz, Zerrin; Ozer, Ozge; Alehan, Fusun; Sahin, Feride Iffet
    Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome.
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    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
    (2016) Alehan, Fusun; 26931382
    Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a beta 1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate required for proper N-linked glycosylation. ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. To date 13 mutations in 18 patients from 14 families have been described with varying degrees of clinical severity. We identified and characterized 39 previously unreported cases of ALG1-CDG from 32 families and add 26 new mutations. Pathogenicity of each mutation was confirmed based on its inability to rescue impaired growth or hypoglycosylation of a standard biomarker in an alg1-deficient yeast strain. Using this approach we could not establish a rank order comparison of biomarker glycosylation and patient phenotype, but we identified mutations with a lethal outcome in the first two years of life. The recently identified protein-linked xeno-tetrasaccharide biomarker, NeuAc-Gal-GlcNAc2, was seen in all 27 patients tested. Our study triples the number of known patients and expands the molecular and clinical correlates of this disorder. (C) 2016 Wiley Periodicals, Inc.