Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26228
Abstract: Hereditary spastic paraplegia (HSP) is a highly heterogeneous neurologic disorder characterized by lower‐extremity spasticity. Here, we set out to determine the genetic basis of an autosomal dominant, pure, and infantile‐onset form of HSP in a… read more here.
Keywords: hereditary spastic; spastic paraplegia; dominant kpna3; infantile onset ... See more keywords
Infantile-onset Myoclonic Developmental and Epileptic Encephalopathy: a new RARS2 phenotype.
Sign Up to like & getrecommendations! Published in 2021 at "Epilepsia open"
DOI: 10.1002/epi4.12553
Abstract: Recessive variants in RARS2, a nuclear gene encoding a mitochondrial protein, were initially reported in pontocerebellar hypoplasia. Subsequently, a recessive RARS2 early-infantile ( read more here.
Keywords: onset myoclonic; epileptic encephalopathy; rars2 phenotype; infantile onset ... See more keywords
Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23675
Abstract: The genetic etiologies of many rare disorders, including early infantile epileptic encephalopathies, are largely undiagnosed. A 6‐year‐old girl was admitted to the National Institutes of Health Undiagnosed Diseases Program with profound intellectual disability, infantile‐onset seizures,… read more here.
Keywords: uniparental disomy; microdeletion; homozygous microdeletion; early infantile ... See more keywords
Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1846
Abstract: Both Charcot‐Marie‐Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA‐V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens. Herein, we reported a Chinese… read more here.
Keywords: onset cmt2d; cmt2d dsma; infantile onset; gars1 ... See more keywords
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience
Sign Up to like & getrecommendations! Published in 2020 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2020.106398
Abstract: INTRODUCTION A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield of genetic testing in identifying potential disease causing variants… read more here.
Keywords: genotype phenotype; onset developmental; phenotype correlates; yield ... See more keywords
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100591
Abstract: Objective Enzyme replacement therapy (ERT), the only approved therapy for infantile-onset Pompe disease (IOPD), had heterogeneous clinical effects due to factors such as severity, age at first treatment, dosage, and dosing regimens. We report the… read more here.
Keywords: ert; onset pompe; pompe disease; dosage ... See more keywords
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.163
Abstract: Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs… read more here.
Keywords: nars2 mutations; infantile onset; neurodegenerative disorder; pars2 nars2 ... See more keywords
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-0739-5
Abstract: We analyzed our two new cases of infantile-onset epilepsy with developmental delay with de novo variant in TUBB2A and review the related literatures. Our two probands were both girls with infantile-onset epilepsy and global developmental… read more here.
Keywords: developmental delay; onset epilepsy; case; delay ... See more keywords
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of human genetics"
DOI: 10.1038/s10038-021-00921-1
Abstract: Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination". Clinical and neuroradiological presentation is described as highly similar to Pelizaeus-Merzbacher Disease but evolution over time… read more here.
Keywords: onset transient; infantile onset; cord involvement; transient hypomyelination ... See more keywords
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Brain"
DOI: 10.1093/brain/awac116
Abstract: Abstract Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However,… read more here.
Keywords: pathogenic variants; encephalopathy; adam22 pathogenic; epilepsy ... See more keywords
Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).
Sign Up to like & getrecommendations! Published in 2018 at "Inflammatory bowel diseases"
DOI: 10.1093/ibd/izy165
Abstract: Background Mutations in tumor necrosis factor alpha-induced protein 3 (TNFAIP3), a key player in the negative feedback regulation of nuclear factor-κB signaling, have recently been recognized as leading to early onset autoinflammatory and autoimmune syndrome.… read more here.
Keywords: inflammatory bowel; intractable inflammatory; ibd; infantile onset ... See more keywords