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Toplam kayıt 14, listelenen: 1-10
Evaluation of suicide probability in children and adolescents with epilepsy
(Wiley, 2022)
Background We aimed to examine suicide probability, factors affecting suicide, and personality traits of children and adolescents diagnosed with epilepsy, and to compare their results with those of children without epilepsy. ...
Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020
(W.B. Saunders Ltd, 2022)
Purpose:Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication ...
Utility of brain fluorodeoxyglucose PET in children with possible autoimmune encephalitis
(Lippincott Williams & Wilkins, 2020)
Purpose We aimed to explore the utility and additional clinical contribution of brain fluorodeoxyglucose (FDG) PET imaging for the assessment of children with possible autoimmune encephalitis in comparison to brain MRI. ...
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: Two different presentations
(Springer, 2020)
Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar ...
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities
(Elsevier, 2022)
Background: Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is ...
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia
(Elsevier, 2022)
Background: Today, it is known that about 80 genes are involved in the etiology of hereditary spastic paraplegia. However, there are many cases whose etiology could not be determined by extensive genetic tests such as ...
Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease
(Elsevier, 2020)
Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods: ...
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
(Elsevier, 2020)
Background: Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions ...
Magnetic resonance imaging patterns of subacute sclerosing panencephalitis may mimic metabolic disorders: Clinical, electroencephalographic and imaging features of six cases
(Springer Heidelberg, 2021)
Subacute sclerosing panencephalitis is a rare, devastating neurodegenerative encephalitis whose diagnosis and therapy are still in question. Atypical clinical presentation and heterogeneity of neuroimaging findings that ...
Effects of sulthiame on seizure frequency and EEG in children with electrical status epilepticus during slow sleep
(Academic Press Inc., 2021)
Objective: It is argued that early and adequate treatment of electrical status epilepticus in sleep (ESES) is essential to preserve cognitive functions and possibly recovering lost skills. Although antiepileptic drugs ...