In response to: Fatal status epilepticus —the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer
(Source: Neurogenetics)
Source: Neurogenetics - November 27, 2021 Category: Genetics & Stem Cells Source Type: research
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
(Source: Neurogenetics)
Source: Neurogenetics - November 27, 2021 Category: Genetics & Stem Cells Source Type: research
In response to: Fatal status epilepticus —the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer
(Source: Neurogenetics)
Source: Neurogenetics - November 27, 2021 Category: Genetics & Stem Cells Source Type: research
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
(Source: Neurogenetics)
Source: Neurogenetics - November 27, 2021 Category: Genetics & Stem Cells Source Type: research
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants
(Source: Neurogenetics)
Source: Neurogenetics - November 15, 2021 Category: Genetics & Stem Cells Source Type: research
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia
(Source: Neurogenetics)
Source: Neurogenetics - November 10, 2021 Category: Genetics & Stem Cells Source Type: research
Mutation spectrum and genotype –phenotype correlations in 157 Korean CADASIL patients: a multicenter study
This study reported a different EGFr distribution of Korean patients in comparison to European patients and its correlation with a later age-of-onset. An association between a later onset of stroke/TIA and p.R544C was observed. (Source: Neurogenetics)
Source: Neurogenetics - November 6, 2021 Category: Genetics & Stem Cells Source Type: research
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred for severe ID, myoclonic seizures, cerebellar signs and short stature. Whole exome sequencing identified a novel variant inGRIA3, c.2360A > G, p.(Glu787Gly). TheGRIA3 gene maps to chromosome Xq25 and the c.2360A > G variant was transmitted by his healthy mother. Subsequent analysis in the family showed a segregation pattern compatible with the causative role of this variant, further supported by preliminary functional insights. We provide a detailed description of the clini...
Source: Neurogenetics - November 3, 2021 Category: Genetics & Stem Cells Source Type: research
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype
AbstractThe target of EGR1 protein 1 (TOE1) is a 3-exonuclease belonging to the Asp-Glu-Asp-Asp deadenylase family that plays a vital role in the maturation of a variety of small nuclear RNAs (snRNAs). Bi-allelic variants inTOE1 have been reported to cause a rare and severe neurodegenerative syndrome, pontocerebellar hypoplasia type 7 (PCH7) (OMIM # 614,969), which is characterized by progressive neurodegeneration, developmental delay, and ambiguous genitalia. Here, we describe the case of a 5-year-6-month-old female Chinese patient who presented with cerebral dysplasia, moderate intellectual disability, developmental dela...
Source: Neurogenetics - October 30, 2021 Category: Genetics & Stem Cells Source Type: research
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes
AbstractFamilial periodic paralyses (PPs) are inherited disorders of skeletal muscle characterized by recurrent episodes of flaccid muscle weakness. PPs are classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. HypoPP is an autosomal dominant disease caused by mutations in theCACNA1S gene, encoding for Cav1.1 channel (HypoPP-1), orSCN4A gene, encoding for Nav1.4 channel (HypoPP-2). In the present study, we included 60 patients with a clinical diagnosis of HypoPP. Fifty-one (85%) patients were tested using the direct sequencing (S...
Source: Neurogenetics - October 5, 2021 Category: Genetics & Stem Cells Source Type: research
