0000000000043276

AUTHOR

Ingo Helbig

showing 3 related works from this author

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

2019

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.

0301 basic medicineMaleGénétique clinique[SDV]Life Sciences [q-bio]MedizinPhysiology030105 genetics & hereditySeizures/epidemiologyEpilepsyBrain Diseases/epidemiologyX-linked inheritanceIntellectual disabilityGuanine Nucleotide Exchange FactorsProtein IsoformsMissense mutationGenetics(clinical)10. No inequalityNon-U.S. Gov'tGenetics (clinical)X-linked recessive inheritanceComputingMilieux_MISCELLANEOUSBrain DiseasesSex CharacteristicsResearch Support Non-U.S. Gov'tBrainSciences bio-médicales et agricoles3. Good healthPedigreePhenotypeintellectual disabilityFemaleBrain/growth & developmentSex characteristicsGénétique moléculaireGuanine Nucleotide Exchange Factors/geneticsEncephalopathyResearch SupportX-inactivationArticle03 medical and health sciencesSeizuresProtein Isoforms/geneticsmedicineJournal ArticleIQSEC2HumansIntellectual Disability/epidemiology[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryInfant NewbornisoformsCorrectionInfantmedicine.diseaseNewbornHuman genetics030104 developmental biologyMutationepilepsyHuman medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Correction: IQSEC2-related encephalopathy in males and females:a comparative study including 37 novel patients

2019

This Article was originally published under Nature Research’s License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.

Pediatricsmedicine.medical_specialtyText miningbusiness.industryPublished ErratumEncephalopathyMedizinMEDLINEMedicinebusinessmedicine.diseaseGenetics (clinical)
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

2021

Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was include…

Pediatricsmedicine.medical_specialtySocio-culturale[SDV.GEN] Life Sciences [q-bio]/GeneticsElectroencephalographyEpilepsyDevelopmental and Epileptic EncephalopathyIntellectual disabilitymedicineGenetics (clinical)feeding difficulties[SDV.GEN]Life Sciences [q-bio]/Geneticsmedicine.diagnostic_testbusiness.industryfungimedicine.diseaseHypotoniaEpileptic spasmsNeonatal hypotonianeonatal hypotoniaEpilepsy syndromesCohortepilepsyNeurology (clinical)medicine.symptombusiness
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