Publications by authors named "Biayna Sukhudyan"

Purpose: We present our experience with the national epilepsy surgery program in Armenia by tracing the development of epilepsy surgery in the largest pediatric neurology department at "Arabkir" Medical Center. This development was possible on the basis of a strong collaboration with the Epilepsy Surgery center at the University Hospital "Sofia St. Ivan Rilski," Sofia, Bulgaria.

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Mitochondrial DNA depletion syndromes (MDS) are a group of clinically and genetically heterogeneous autosomal recessive disorders characterized by a reduction of mtDNA. We report two siblings of Armenian origin with early onset neurodegenerative disease characterized by encephalopathy, severe hypotonia, facial dyskinetic movements, abnormal eye movements, severe failure to thrive, and abnormal renal and hepatic function. Sanger sequencing confirmed two variants in the C10orf2 gene (TWNK) and indicated a diagnosis of MDS.

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Article Synopsis
  • Neuronal migration defects like pachygyria are severe developmental brain issues, and researchers found mutations in the CTNNA2 gene, which encodes αN-catenin, linked to a recessive form of this condition.
  • Loss of αN-catenin in neurons resulted in problems with the stability and migration of neurites, though it did not disrupt β-catenin signaling.
  • The study reveals that αN-catenin interacts with actin and suppresses ARP2/3 activity, suggesting that targeting this pathway could help address neuronal issues related to CTNNA2 mutations.
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Basal ganglia infarction in young children, mostly after mild head trauma, has been repeatedly reported. The pathogenesis and the risk factors are not fully understood. Lenticulostriate vasculopathy, usually referred to as basal ganglia calcification, is discussed as one of them.

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This article assesses attitudes toward morbidity and mortality conferences among medical and surgical pediatric specialists in Armenia.

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Purpose: PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

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Aim: Head thrusts are well documented in Joubert syndrome and ocular motor apraxia. We provide a detailed clinical characterization of head titubation in 13 young children with Joubert syndrome.

Method: Detailed characterization of head titubation was assessed by targeted clinical evaluation and/or analysis of videos.

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West syndrome is an age-dependent epileptic encephalopathy. Despite potential side effects, hormonal therapy remains the main treatment for West syndrome. Here, we report on 10 patients receiving steroid treatment who presented with unusual, mostly hyperkinetic, movements.

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Gómez-López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients.

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