A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.352
Abstract: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported. Herein, we describe a proband born of a consanguineous marriage, who… read more here.
Keywords: epilepsy; psychomotor retardation; novel splice; psychomotor ... See more keywords
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)
Sign Up to like & getrecommendations! Published in 2018 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-018-0200-z
Abstract: The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this study, we report on a novel homozygous mutation in UNC80… read more here.
Keywords: novel homozygous; hypotonia psychomotor; infantile hypotonia; characteristic facies ... See more keywords
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.08.004
Abstract: Deleterious homozygous or compound heterozygous mutations in the TBCK (TBC1-domain-containing kinase) gene (implicated in the MTOR pathway) produce profound hypotonia, global developmental delay, facial dysmorphic features, and brain abnormalities. The disorder has been named "infantile… read more here.
Keywords: hypotonia; hypotonia psychomotor; infantile hypotonia; characteristic facies ... See more keywords
Fanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2022.03.001
Abstract: BACKGROUND Fanconi syndrome (FS) can be of primary or secondary origin. Some cases of FS secondary to the use of sodium valproate (VPA) have been described, mostly in children with severe psychomotor retardation who are… read more here.
Keywords: psychomotor retardation; severe psychomotor; fanconi syndrome; sodium valproate ... See more keywords
A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurochemistry"
DOI: 10.1111/jnc.14828
Abstract: The Fizzy‐related protein 1 (Fzr1) gene encodes Cdh1 protein, a coactivator of the E3 ubiquitin ligase anaphase‐promoting complex/cyclosome (APC/C). Previously, we found that genetic ablation of Fzr1 promotes the death of neural progenitor cells leading… read more here.
Keywords: epilepsy; cdh1; microcephaly psychomotor; psychomotor retardation ... See more keywords
COMT Val158Met Polymorphism Influences the Cerebral Blood Flow Changes Related to Psychomotor Retardation in Major Depressive Disorder
Sign Up to like & getrecommendations! Published in 2022 at "Neuropsychiatric Disease and Treatment"
DOI: 10.2147/ndt.s379146
Abstract: Background Previous studies revealed different cerebral blood flow (CBF) changes of major depressive disorder (MDD) patients with psychomotor retardation (PMR). These different changes might result from the modulation of other factors, such as genes. This… read more here.
Keywords: cbf; comt; psychomotor retardation; comt val158met ... See more keywords
Cortical Brain Perfusion and Cognitive Event Related Potentials in Patients with Psychomotor Retardation in Late Onset Depression.
Sign Up to like & getrecommendations! Published in 2022 at "Psychiatria Danubina"
DOI: 10.24869/psyd.2022.668
Abstract: BACKGROUND Late onset depression is characterised by pronounced cognitive impairment, more somatic complaints and psychomotor retardation. Psychomotor slowing may be due to impairment in either motor or cognitive domain. Electrophysiology may be particularly convenient as… read more here.
Keywords: depression; related potentials; psychomotor retardation; onset depression ... See more keywords
Clinico-radiological Profile of Children with Pontocerebellar Hypoplasia
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Neurosciences"
DOI: 10.4103/jpn.jpn_6_19
Abstract: Aims and Objectives: Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous group of neurodegenerative/neurodevelopmental disorder of pons and cerebellum with onset in prenatal period. This study aimed to discuss the clinical, radiological profile, and outcome of four… read more here.
Keywords: four children; pch; radiological profile; psychomotor retardation ... See more keywords