Search Results - "Neurodevelopmental Disorders genetics"

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities

Authors: Kakar, Naseebullah Mascarenhas, Selinda Ali, Asmat et al.

Source: Hum Genet

Subject Terms: Male, Adult, 0301 basic medicine, Adolescent, Developmental Disabilities, Diseases, Nerve Tissue Proteins, Genes, Recessive, Consanguinity, 03 medical and health sciences, Behavioral abnormalities, Intellectual Disability, Exome Sequencing, Humans, Child, Alleles, Original Investigation, 0303 health sciences, Disability, Body Regions, NAV3, Pedigree, Dysmorphism, Neurology, Neurodevelopmental Disorders, Child, Preschool, Homozygote [MeSH], Consanguinity [MeSH], Adolescent [MeSH], Female [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Exome Sequencing [MeSH], Nerve Tissue Proteins/genetics [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Pedigree [MeSH], Male [MeSH], Genes, Recessive [MeSH], Developmental Disabilities/genetics [MeSH], Alleles [MeSH], Child [MeSH], Child, Preschool [MeSH], Female

Access URL: https://pubmed.ncbi.nlm.nih.gov/39708122
https://repository.publisso.de/resource/frl:6517943

Further delineation of the SCAF4-associated neurodevelopmental disorder

Authors: Cosima M. Schmid Anne Gregor Anna Ruiz et al.

Contributors: Cosima M. Schmid Anne Gregor Anna Ruiz et al.

Source: Eur J Hum Genet
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z, Tümer, Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, C G, Abreu, N J, Faust, H, Müller-Nedebock, A, Tran Mau-Them, F, Sticht, H & Zweier, C 2025, ' Further delineation of the SCAF4-associated neurodevelopmental disorder ', European Journal of Human Genetics, vol. 33, no. 5, pp. 588-594 . https://doi.org/10.1038/s41431-024-01760-2

Subject Terms: Male, Adult, 0301 basic medicine, 2716 Genetics (clinical), Adolescent, 10039 Institute of Medical Genetics, Medizin, Mutation, Missense, 610 Medicine & health, Humans, Female, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Child, Preschool, Child, Phenotype, Infant, Article, 03 medical and health sciences, 1311 Genetics, Genetics research, Genetics, Genetics (clinical), 0303 health sciences, Paediatrics - Development and lifelong plasticity, Autism spectrum disorders, Neurodevelopmental Disorders, 570 Life sciences, biology, Human Genetics - Development and lifelong plasticity

File Description: application/pdf; s41431_024_01760_2.pdf - application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39668183
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/318974
https://hdl.handle.net/2066/318974
https://repository.ubn.ru.nl//bitstream/handle/2066/318974/318974.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C4EA3A0740C86
https://serval.unil.ch/notice/serval:BIB_C4EA3A0740C8
https://serval.unil.ch/resource/serval:BIB_C4EA3A0740C8.P001/REF.pdf
https://curis.ku.dk/ws/files/449711814/s41431-024-01760-2.pdf
https://www.zora.uzh.ch/id/eprint/266396/
https://doi.org/10.5167/uzh-266396
https://www.ncbi.nlm.nih.gov/pubmed/39668183
https://doi.org/10.1038/s41431-024-01760-2
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85211941491

Sleep disturbances in SCN8A‐related disorders

Authors: Francesca Furia Katrine M. Johannesen Claudia M. Bonardi et al.

Source: Epilepsia Open
Epilepsia Open, Vol 9, Iss 6, Pp 2186-2197 (2024)
Furia, F, Johannesen, K M, Bonardi, C M, Previtali, R, Aledo-Serrano, A, Mastrangelo, M, Favaro, J, Masnada, S, di Micco, V, Proietti, J, Veggiotti, P, Rubboli, G, Cantalupo, G, Olofsson, K, Møller, R S & Gardella, E 2024, ' Sleep disturbances in SCN8A-related disorders ', Epilepsia open, vol. 9, no. 6, pp. 2186-2197 . https://doi.org/10.1002/epi4.13042

Subject Terms: Male, Sleep Wake Disorders, Adult, SCN8A, Adolescent, Polysomnography, Neurodevelopmental Disorders/genetics, Epilepsy/genetics, developmental and epileptic encephalopathy (DEE), Young Adult, Humans, Preschool, RC346-429, Child, Epilepsy, Electroencephalography, NAV1.6 Voltage-Gated Sodium Channel/genetics, epilepsy, sleep disorders, NAV1.6 Voltage-Gated Sodium Channel, Neurodevelopmental Disorders, Child, Preschool, Original Article, Female, Neurology. Diseases of the nervous system

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39361253
https://doaj.org/article/b48d9a2ff848407d8fdd7c2705e2b9f8
https://hdl.handle.net/2434/1158170
https://doi.org/10.1002/epi4.13042
https://hdl.handle.net/11562/1141726
https://doi.org/10.1002/epi4.13042
https://curis.ku.dk/ws/files/423971228/Epilepsia_Open_2024_Furia_Sleep_disturbances_in_SCN8A_related_disorders.pdf
https://portal.findresearcher.sdu.dk/da/publications/71a03587-150b-46fa-940e-8d42b394bae1
https://doi.org/10.1002/epi4.13042

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

Authors: Tess Holling Ibrahim M. Abdelrazek Ghada M. Elhady et al.

Source: J Hum Genet

Subject Terms: 0301 basic medicine, 0303 health sciences, 38/77, 45/90, Neurodevelopmental Disorders/pathology [MeSH], Cerebellum/abnormalities [MeSH], Cerebellum/metabolism [MeSH], Codon, Nonsense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Alternative Splicing/genetics [MeSH], Magnetic Resonance Imaging [MeSH], Cerebellum/diagnostic imaging [MeSH], 45/22, Phenotype [MeSH], 692/699/375, Child [MeSH], Nervous System Malformations/genetics [MeSH], Cerebellum/pathology [MeSH], Homozygote [MeSH], Female [MeSH], Nonsense Mediated mRNA Decay/genetics [MeSH], Exons/genetics [MeSH], 692/308/2056, Humans [MeSH], Developmental Disabilities [MeSH], Article, Pedigree [MeSH], Nervous System Malformations/pathology [MeSH], 45/23, Receptors, LDL/genetics [MeSH], article, Developmental Disabilities, Homozygote, Exons, Nervous System Malformations, Magnetic Resonance Imaging, Pedigree, Nonsense Mediated mRNA Decay, 3. Good health, Alternative Splicing, 03 medical and health sciences, Phenotype, Receptors, LDL, Codon, Nonsense, Neurodevelopmental Disorders, Cerebellum, Humans, Female, Child

Access URL: https://pubmed.ncbi.nlm.nih.gov/39085459
https://repository.publisso.de/resource/frl:6492449

Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature: analysis of a new case, and a systematic review of the literature

Authors: Kimmie Kristiansen Ditte Lammers Vernal Ditte Roth Hulgaard

Source: Kristiansen, K, Vernal, D L & Hulgaard, D R 2025, 'Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature', European Child & Adolescent Psychiatry, vol. 34, no. 3, 876678, pp. 835-852. https://doi.org/10.1007/s00787-024-02522-7

Subject Terms: Lorazepam/therapeutic use, Male, NEDAMSS, Autism, Speech Disorders/genetics, Catatonia, Syndrome, Neurodevelopmental Disorders/genetics, Psychosis, Lorazepam, Speech Disorders, 3. Good health, 03 medical and health sciences, Catatonia/genetics, Phenotype, 0302 clinical medicine, Neurodevelopmental Disorders, Seizures, IRF2BPL, Humans, Female, Seizures/genetics, Child

Access URL: https://pubmed.ncbi.nlm.nih.gov/39031186

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Authors: Yuyang Chen Ruebena Dawes Hyung Chul Kim et al.

Contributors: Yuyang Chen Ruebena Dawes Hyung Chul Kim et al.

Source: Nature
Nature, Vol. 632, no.8026, p. 832-840 (2024)
Nature: New biology, vol 632, iss 8026

Subject Terms: Male, RNA, Medical Sciences, Medizin, Gene Expression, Neurodevelopmental Disorders/genetics, RNA, Small Nuclear, Medical Specialties, Medicine and Health Sciences, Developmental, RNA Splice Sites/genetics, Child, Biological Phenomena, Human Biology & Physiology, Cell Phenomena, Stem Cells, Brain/growth & development/metabolism, Life Sciences, Brain, Gene Expression Regulation, Developmental, Mutation, Syndrome, 3. Good health, Medical Molecular Biology, Child, Preschool, Female, Medical Genetics, Genetics & Genomics, Model organisms, Heterozygote, Adolescent, Neurology and neuromuscular diseases, Article, Biomedical Informatics, Young Adult, Rare Diseases/genetics, Rare Diseases, Small Nuclear, and Immunity, Animals, Humans, Preschool, Spliceosomes/genetics, Alleles, FOS: Clinical medicine, Neurosciences, Infant, Genetics and Genomics, Gene Expression Regulation, Neurodevelopmental Disorders, Medical genetics (excl. cancer genetics), Spliceosomes, Small Nuclear/genetics, RNA Splice Sites, Developmental Biology

File Description: application/pdf; text

Access URL: https://pubmed.ncbi.nlm.nih.gov/38991538
https://ora.ox.ac.uk/objects/uuid:38bfc81b-085d-4113-9d4d-cec9ba835dcd
https://doi.org/10.1038/s41586-024-07773-7
https://hdl.handle.net/2078.1/296800
https://discovery-pp.ucl.ac.uk/id/eprint/10194623/
https://escholarship.org/uc/item/4xk7g44k
https://escholarship.org/content/qt4xk7g44k/qt4xk7g44k.pdf
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85199980040
https://doi.org/10.1038/s41586-024-07773-7
https://www.ncbi.nlm.nih.gov/pubmed/38991538

‘You constantly have to be switched on’: A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands

Authors: Sietske A. L. van Till Sybren Sybesma Hilgo Bruining et al.

Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-13 (2025)

Subject Terms: Pediatrics, Caregivers, Neurodevelopmental disorders / genetics, Qualitative, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/0c3ef8b46e144c998a8281de36236569

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant: Lessons learned from the p.(Ala636Thr) variant

Authors: Nicolai Kohring Tvergaard Tinatin Tkemaladze Tommy Stödberg et al.

Source: Tvergaard, N K, Tkemaladze, T, Stödberg, T, Kvarnung, M, Tatton-Brown, K, Baralle, D, Tümer, Z & Bayat, A 2024, ' Unraveling GRIA1 neurodevelopmental disorders : Lessons learned from the p.(Ala636Thr) variant ', Clinical Genetics, vol. 106, no. 4, pp. 427-436 . https://doi.org/10.1111/cge.14577

Subject Terms: Male, Adult, Adolescent, AMPAR, AMPA/genetics, Neurodevelopmental Disorders/genetics, Young Adult, Intellectual Disability, Receptors, GRIA1, Humans, Genetic Predisposition to Disease, Receptors, AMPA, autonomy, Preschool, Child, treatment, developmental trajectory, syndrome, Intellectual Disability/genetics, 3. Good health, Phenotype, natural history, Neurodevelopmental Disorders, Child, Preschool, Mutation, outcome, epilepsy, Female

File Description: application/pdf; text

Access URL: https://pubmed.ncbi.nlm.nih.gov/38890806
https://curis.ku.dk/ws/files/403383251/Clinical_Genetics_2024_Tvergaard_Unraveling_GRIA1_neurodevelopmental_disorders_Lessons_learned_from_the_p_Ala636Thr.pdf
https://portal.findresearcher.sdu.dk/da/publications/bfa9574d-6f0a-4941-9d1b-d99c2fd23554
https://doi.org/10.1111/cge.14577
https://publications.scilifelab.se/publication/9fd8622899c54e13b418fc659d75c008

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Authors: Kalm, T. Schob, C. Völler, H. et al.

Contributors: Kalm, T. Schob, C. Völler, H. et al.

Source: Am J Hum Genet
American Journal of Human Genetics, 111, 6, pp. 1206-1221

Subject Terms: Adult, Male, Heterozygote, Adolescent, Medizin, Mutation, Missense, Human Genetics - Radboud University Medical Center - DCMN, Genetic Diseases, X-Linked/genetics, Neurodevelopmental Disorders/genetics, Epilepsy/genetics, Article, Exome Sequencing, Journal Article, Humans, Child, Epilepsy, Shal Potassium Channels/genetics, Infant, Paediatrics - Radboud University Medical Center - DCMN, Genetic Diseases, X-Linked, Pedigree, 3. Good health, Phenotype, Shal Potassium Channels, Mutation, Missense/genetics, Neurodevelopmental Disorders, Child, Preschool, Human Genetics - Radboud University Medical Center, Female

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38772379
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/308074
https://doi.org/10.1016/j.ajhg.2024.04.019
https://dspace.library.uu.nl/handle/1874/453547
https://hdl.handle.net/2066/308074
https://repository.ubn.ru.nl//bitstream/handle/2066/308074/308074.pdf
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85194546896
https://doi.org/10.1016/j.ajhg.2024.04.019
https://www.ncbi.nlm.nih.gov/pubmed/38772379

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Authors: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree et al.

Contributors: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree et al.

Source: Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1 <http://dx.doi.org/10.1038/s41431-024-01610-1>

Subject Terms: Male, 0301 basic medicine, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Intellectual disability, Gene, Histones, Genetic heterogeneity, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Genetics(clinical), Missense mutation, Child, 0303 health sciences, Life Sciences, Neurodegenerative Diseases, 16. Peace & justice, Genomic Rearrangements and Copy Number Variations, 3. Good health, Fenotip, Chemistry, Phenotype, Child, Preschool, Molecular Basis of Rett Syndrome and Related Disorders, Female, Epigenetics, Trastorns del desenvolupament - Aspectes genètics, Adult, Adolescent, 610 Medicine & health, Hypotonia, Adolescent [MeSH], Female [MeSH], Adult [MeSH], Histones/genetics [MeSH], Humans [MeSH], Neurodevelopmental Disorders/pathology [MeSH], Intellectual Disability/genetics [MeSH], 631/208/1516, Neurodegenerative Diseases/pathology [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Neurodegenerative Diseases/genetics [MeSH], Intellectual Disability/pathology [MeSH], 631/208/366, Article, Male [MeSH], Phenotype [MeSH], Child [MeSH], article, Child, Preschool [MeSH], 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Journal Article, Genetics, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Humans, Discapacitat intel·lectual, Biology, Brain Development, Standards and Guidelines for Genetic Variant Interpretation, Neurodevelopmental Disorders, FOS: Biological sciences, Human medicine, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38678163
https://hdl.handle.net/11351/11842
https://dspace.library.uu.nl/handle/1874/454819
https://hdl.handle.net/1887/4210177
https://hdl.handle.net/10067/2058020151162165141
https://repository.uantwerpen.be/docstore/d:irua:23508
https://boris.unibe.ch/196319/
https://repository.publisso.de/resource/frl:6492310
https://discovery-pp.ucl.ac.uk/id/eprint/10191954/

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

Authors: Ugo Sorrentino Sylvia Boesch Diane Doummar et al.

Source: J Neurol
Journal of Neurology

Subject Terms: Adult, 0301 basic medicine, 0303 health sciences, Adolescent, ddc, 3. Good health, Short Commentary, Movement disorders, Dystonia, Exome sequencing, Autism, DNA-Binding Proteins, Young Adult, 03 medical and health sciences, Phenotype, Neurodevelopmental Disorders, Dystonic Disorders, Child, Preschool, Humans, Female, Child, Frameshift Mutation, Dystonia/genetics [MeSH], Dystonia/diagnosis [MeSH], Transcription Factors/genetics [MeSH], Frameshift Mutation [MeSH], Neurodevelopmental Disorders/diagnosis [MeSH], DNA-Binding Proteins/genetics [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Dystonia/etiology [MeSH], Dystonic Disorders/complications [MeSH], Phenotype [MeSH], Dystonic Disorders/diagnosis [MeSH], Child [MeSH], Adolescent [MeSH], Female [MeSH], Adult [MeSH], Humans [MeSH], Dystonic Disorders/physiopathology [MeSH], Dystonic Disorders/genetics [MeSH], Young Adult [MeSH], Dystonia/physiopathology [MeSH], Child, Preschool [MeSH], Transcription Factors

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38441608
https://repository.publisso.de/resource/frl:6509772
https://epub.ub.uni-muenchen.de/117648/
https://mediatum.ub.tum.de/1770808

YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs

Authors: Marlene F Pereira Veronica Finazzi Ludovico Rizzuti et al.

Source: bioRxiv
Mol Psychiatry
Molecular psychiatry, vol. 30, no. 8, pp. 3413-3429

Subject Terms: YY1 Transcription Factor/genetics, YY1 Transcription Factor/metabolism, Humans, Gene Regulatory Networks/genetics, Neurons/metabolism, Mutation/genetics, Neurogenesis/genetics, Intellectual Disability/genetics, Astrocytes/metabolism, Haploinsufficiency/genetics, Transcription Factors/metabolism, Transcription Factors/genetics, Neurodevelopmental Disorders/genetics, Neural Stem Cells/metabolism, Basic Helix-Loop-Helix Transcription Factors/metabolism, Basic Helix-Loop-Helix Transcription Factors/genetics, Cerebral Cortex/metabolism, Male, Article

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39987231
https://pubmed.ncbi.nlm.nih.gov/38405909
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E2BCC676B9FB7
https://serval.unil.ch/notice/serval:BIB_E2BCC676B9FB
https://serval.unil.ch/resource/serval:BIB_E2BCC676B9FB.P001/REF.pdf

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Authors: Paulet, Alix Bennett-Ness, Cavan Ageorges, Faustine et al.

Contributors: Paulet, Alix Bennett-Ness, Cavan Ageorges, Faustine et al.

Source: European Journal of Human Genetics, 32, 9, pp. 1144-1149
Paulet, A, Bennett-Ness, C, Ageorges, F, Trost, D, Green, A, Goudie, D, Jewell, R, Kraatari-Tiri, M, Piard, J, Coubes, C, Lam, W, Lynch, S A, Samuel, G, Ramond, F, Fluss, J, Fagerberg, C, Brasch Andersen, C, Varvagiannis, K, Kleefstra, T, Gérard, B, Fradin, M, Vitobello, A, Tenconi, R, Denommé-Pichon, A-S, Vincent-Devulder, A, Haack, T, Marsh, J A, Laulund, L W, Grimmel, M, Riess, A, de Boer, E, Padilla-Lopez, S, Bakhtiari, S, Kruer, M C, Levy, J, Verloes, A, Abbott, C M & Ruaud, L 2024, ' Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-024-01560-8

Subject Terms: Adult, Male, Adolescent, [SDV]Life Sciences [q-bio], Mutation, Missense, Neurodevelopmental Disorders/genetics, Human Genetics - Radboud University Medical Center - DCMN, Epilepsy/genetics, Peptide Elongation Factor 1, Intellectual Disability, Humans, Preschool, Child, Genetic Association Studies, 2. Zero hunger, Epilepsy, Infant, Intellectual Disability/genetics, 3. Good health, [SDV] Life Sciences [q-bio], Phenotype, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, Missense, Peptide Elongation Factor 1/genetics

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38355961
https://pure.eur.nl/en/publications/b9b08235-f2e1-4767-8793-0970067d2490
https://doi.org/10.1038/s41431-024-01560-8
https://hdl.handle.net/2066/310156
https://inserm.hal.science/inserm-04957409v1
https://inserm.hal.science/inserm-04957409v1/document
https://doi.org/10.1038/s41431-024-01560-8
https://portal.findresearcher.sdu.dk/da/publications/af50efc7-1e48-485c-aee0-6118e144ea85
https://doi.org/10.1038/s41431-024-01560-8
https://hdl.handle.net/20.500.11820/11cdcecb-563a-43f2-9d18-51b14aeffa44
https://www.pure.ed.ac.uk/ws/files/413340181/AAM_EJHG_main_text.pdf
https://inserm.hal.science/inserm-04957409v1/document
https://inserm.hal.science/inserm-04957409v1
https://doi.org/10.1038/s41431-024-01560-8

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

Authors: Fatimah Albuainain Yuwei Shi Sarah Lor-Zade et al.

Source: Eur J Hum Genet

Subject Terms: Adult, 0301 basic medicine, 0303 health sciences, Base Sequence, Article, DNA-Binding Proteins, 03 medical and health sciences, Phenotype, SDG 3 - Good Health and Well-being, Neurodevelopmental Disorders, Intellectual Disability, Humans, Female, Autistic Disorder, Female [MeSH], 631/208, Adult [MeSH], Transcription Factors/genetics [MeSH], 692/308/2056, Humans [MeSH], Intellectual Disability/genetics [MeSH], DNA-Binding Proteins/genetics [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Autistic Disorder/genetics [MeSH], 45/23, 45/91, Phenotype [MeSH], Base Sequence [MeSH], article, Transcription Factors

Access URL: https://pubmed.ncbi.nlm.nih.gov/38200082
https://pure.eur.nl/en/publications/a93a40be-d95d-4721-87f8-429b9c1a21a3
https://doi.org/10.1038/s41431-023-01530-6
https://repository.publisso.de/resource/frl:6501022

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Authors: Berardo Rinaldi Allan Bayat Linda G Zachariassen et al.

Contributors: Berardo Rinaldi Allan Bayat Linda G Zachariassen et al.

Source: Rinaldi, B, Bayat, A, Zachariassen, L G, Sun, J-H, Ge, Y-H, Zhao, D, Bonde, K, Madsen, L H, Awad, I A A, Bagiran, D, Sbeih, A, Shah, S M, El-Sayed, S, Lyngby, S M, Pedersen, M G, Stenum-Berg, C, Walker, L C, Krey, I, Delahaye-Duriez, A, Emrick, L T, Sully, K, Murali, C N, Burrage, L C, Plaud Gonzalez, J A, Parnes, M, Friedman, J, Isidor, B, Lefranc, J, Redon, S, Heron, D, Mignot, C, Keren, B, Fradin, M, Dubourg, C, Mercier, S, Besnard, T, Cogne, B, Deb, W, Rivier, C, Milani, D, Bedeschi, M F, Di Napoli, C, Grilli, F, Marchisio, P, Koudijs, S, Veenma, D, Argilli, E, Lynch, S A, Au, P Y B, Ayala Valenzuela, F E, Brown, C, Masser-Frye, D, Jones, M, Patron Romero, L, Li, W L, Thorpe, E, Hecher, L, Johannsen, J, Denecke, J, McNiven, V, Szuto, A, Wakeling, E, Cruz, V, Sency, V, Wang, H, Piard, J, Kortüm, F, Herget, T, Bierhals, T, Condell, A, Zeev, B B, Kaur, S, Christodoulou, J, Piton, A, Zweier, C, Kraus, C, Micalizzi, A, Trivisano, M, Specchio, N, Lesca, G, Møller, R S, Tümer, Z, Musgaard, M, Gerard, B, Lemke, J R, Shi, Y S & Kristensen, A S 2024, ' Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ', Brain, vol. 147, no. 5, pp. 1837-1855 . https://doi.org/10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403 <http://dx.doi.org/10.1093/brain/awad403>

Subject Terms: AMPA receptor, GRIA, GRIA3, clinical biomarker, genotype-phenotype, Male, Adult, Gain of Function Mutation/genetics, Medical Sciences, Adolescent, 610 Medicine & health, [SDV.GEN] Life Sciences [q-bio]/Genetics, Genotype-phenotype, AMPA/genetics, Neurodevelopmental Disorders/genetics, Biomedical Informatics, Loss of Function Mutation/genetics, Young Adult, Loss of Function Mutation, AMPA, Receptors, Medical Specialties, Medicine and Health Sciences, and Immunity, Humans, Receptors, AMPA, Preschool, Child, Biological Phenomena, [SDV.GEN]Life Sciences [q-bio]/Genetics, Cell Phenomena, Clinical biomarker, Life Sciences, Infant, Genetics and Genomics, Phenotype, Neurodevelopmental Disorders, Medical Molecular Biology, Child, Preschool, Gain of Function Mutation, Female, Medical Genetics

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38038360
https://pure.eur.nl/en/publications/d8f07fae-d289-416a-95eb-d6afb33abf5e
https://doi.org/10.1093/brain/awad403
https://hdl.handle.net/2434/1022895
https://doi.org/10.1093/brain/awad403
https://curis.ku.dk/ws/files/387070536/awad403_2_.pdf
https://univ-rennes.hal.science/hal-04386909v1/document
https://doi.org/10.1093/brain/awad403
https://univ-rennes.hal.science/hal-04386909v1
https://portal.findresearcher.sdu.dk/da/publications/47af7f6f-7eb6-414f-9a42-c49a4c13d49f
https://doi.org/10.1093/brain/awad403
https://boris.unibe.ch/189780/

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Authors: Charlotte Herbst Viktoria Bothe Meret Wegler et al.

Source: Hum Genet

Subject Terms: Male, Heterozygote, Adolescent [MeSH], Female [MeSH], Heterozygote [MeSH], Humans [MeSH], Animals [MeSH], Loss of Function Mutation [MeSH], GTPase-Activating Proteins/genetics [MeSH], Mutation, Missense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Original Investigation, Mice [MeSH], Infant [MeSH], Male [MeSH], Microcephaly/genetics [MeSH], Developmental Disabilities/genetics [MeSH], Phenotype [MeSH], Child [MeSH], Child, Preschool [MeSH], Adolescent, Developmental Disabilities, GTPase-Activating Proteins, Mutation, Missense, Infant, 3. Good health, Mice, Phenotype, Neurodevelopmental Disorders, Loss of Function Mutation, Child, Preschool, Microcephaly, Humans, Animals, Female, Child

Access URL: https://pubmed.ncbi.nlm.nih.gov/38526744
https://repository.publisso.de/resource/frl:6522737

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

Authors: Eyyup Uctepe Barbara Vona Fatma Nisa Esen et al.

Contributors: Eyyup Uctepe Barbara Vona Fatma Nisa Esen et al.

Source: Eur J Hum Genet

Subject Terms: [SDV] Life Sciences [q-bio], Cysteine Endopeptidases, Phenotype, 38/22, 38/77, 59/57, 631/208/2489/1512, 45/47, Lissencephaly/diagnostic imaging [MeSH], 631/208/2489/144, Codon, Nonsense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], 38/109, 45/22, Phenotype [MeSH], 42/44, Cysteine Endopeptidases/genetics [MeSH], 692/308/2056, Humans [MeSH], Caspase 2/genetics [MeSH], Lissencephaly/genetics [MeSH], 38/44, 692/699/375/366, Article, 45/23, Alleles [MeSH], 692/420/2489/144, article, Neurodevelopmental Disorders, Codon, Nonsense, Caspase 2, Humans, Lissencephaly, Alleles

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Access URL: https://pubmed.ncbi.nlm.nih.gov/37880421
https://resolver.sub.uni-goettingen.de/purl?gro-2/138772
https://repository.publisso.de/resource/frl:6522717
https://hal.univ-lille.fr/hal-04630949v1
https://hal.univ-lille.fr/hal-04630949v1/document
https://doi.org/10.1038/s41431-023-01461-2
https://discovery-pp.ucl.ac.uk/id/eprint/10180733/

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Authors: Husson, Thomas Lecoquierre, François Nicolas, Gaël et al.

Contributors: Husson, Thomas Lecoquierre, François Nicolas, Gaël et al.

Source: Eur J Hum Genet

Subject Terms: [SDV.GEN]Life Sciences [q-bio]/Genetics, Neurodevelopmental Disorders, Medizin, Humans, [SDV.GEN] Life Sciences [q-bio]/Genetics, Pathology, Molecular, DNA Methylation, Pathology, Molecular [MeSH], 45/61, 692/308/2056, Humans [MeSH], 631/337/176/1988, Neurodevelopmental Disorders/diagnosis [MeSH], 692/53/2421, Neurodevelopmental Disorders/genetics [MeSH], 692/699/375/366, Article, DNA Methylation [MeSH], Biomarkers [MeSH], article, Biomarkers, 3. Good health

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/37872275
https://hal.science/hal-05290645v2/document
https://hal.science/hal-05290645v2
https://doi.org/10.1038/s41431-023-01474-x
https://repository.publisso.de/resource/frl:6518372
https://www.ncbi.nlm.nih.gov/pubmed/37872275
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85174563368
https://doi.org/10.1038/s41431-023-01474-x

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Authors: Elkhateeb, N. Crookes, R. Spiller, M. et al.

Source: Genetics in medicine, vol. 27, no. 3, pp. 101348

Subject Terms: Humans, Male, Neurodevelopmental Disorders/genetics, Female, Child, Phenotype, Preschool, Protein Serine-Threonine Kinases/genetics, Adolescent, Genotype, Retrospective Studies, Infant, Muscle Hypotonia/genetics, Adult, Megalencephaly/genetics, Mutation, Missense/genetics, Autistic Disorder/genetics, Exome Sequencing, Obesity/genetics, MAP3K enzymes, Neurodevelopmental disorder, TAOK1, TAOK2, Thousand and one kinase family

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/39737487; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E18CC9F33C4B0; https://serval.unil.ch/notice/serval:BIB_E18CC9F33C4B; https://serval.unil.ch/resource/serval:BIB_E18CC9F33C4B.P001/REF.pdf

Availability: https://serval.unil.ch/notice/serval:BIB_E18CC9F33C4B
https://doi.org/10.1016/j.gim.2024.101348
https://serval.unil.ch/resource/serval:BIB_E18CC9F33C4B.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E18CC9F33C4B0

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology: deep insights into phenotype-genotype spectrum and underlying pathology

Authors: Henry Oppermann Elia Marcos-Grañeda Linnea A. Weiss et al.

Contributors: Henry Oppermann Elia Marcos-Grañeda Linnea A. Weiss et al.

Source: Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2

Subject Terms: Adult, Homeodomain Proteins, Repressor Proteins/genetics, Heterozygote, Epilepsy, Neurodevelopmental disorders, ICTS (Institute of Clinical and Translational Sciences), Medizin, Transcription Factors/genetics, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Article, 3. Good health, Repressor Proteins, Mice, Phenotype, Neurodevelopmental Disorders, Seizures, Intellectual Disability, Medicine and Health Sciences, Animals, Humans, Homeodomain Proteins/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/pathology, Transcription Factors/metabolism, Transcription Factors

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/37644171
http://hdl.handle.net/10261/341970
https://serval.unil.ch/notice/serval:BIB_483D54F3B66F
https://serval.unil.ch/resource/serval:BIB_483D54F3B66F.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_483D54F3B66F6
https://curis.ku.dk/ws/files/387700368/s41431_023_01445_2.pdf