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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"
Page 1
DHX37 and 46,XY DSD: A New Ribosomopathy?
McElreavey K, Pailhoux E, Bashamboo A. McElreavey K, et al. Sex Dev. 2022;16(2-3):194-206. doi: 10.1159/000522004. Epub 2022 Jul 14. Sex Dev. 2022. PMID: 35835064 Free article. Review.
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia. All affected children have non-syndromic forms of disorders/differences …
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenes …
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
RESULTS: we collected 34 patients (29 females) showing from moderate (4 patients) to severe (22) and profound (8) developmental delay; all showed pontine and cerebellar hypoplasia, all except three with microcephaly. Seventeen out of 34 patients (50%) suffered from epilept …
RESULTS: we collected 34 patients (29 females) showing from moderate (4 patients) to severe (22) and profound (8) developmental delay; all s …
Neurological findings in incontinentia pigmenti; a review.
Meuwissen ME, Mancini GM. Meuwissen ME, et al. Eur J Med Genet. 2012 May;55(5):323-31. doi: 10.1016/j.ejmg.2012.04.007. Epub 2012 May 4. Eur J Med Genet. 2012. PMID: 22564885 Review.
Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations. ...Several clinical presentations could be identified, comprising seizures, infantile encephalopathy, acute disseminated encephalomyelitis and i …
Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations. ...Several …
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
Here we identify nine additional subjects, from seven unrelated families, harbouring different homozygous loss-of-function variants in ABCC9 and presenting with a conserved range of clinical features. All variants are predicted to result in severe truncations or in-frame d …
Here we identify nine additional subjects, from seven unrelated families, harbouring different homozygous loss-of-function variants in ABCC9 …
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Himes RW, et al. J Pediatr. 2021 Mar;230:55-61.e4. doi: 10.1016/j.jpeds.2020.09.038. Epub 2020 Sep 21. J Pediatr. 2021. PMID: 32971146
The patients with Coats plus and those without Coats plus had similar clinical features and courses. Angiodysplasia of the stomach and/or small bowel was described in 8 of the 12 patients who underwent endoscopy; only 4 had esophageal varices. ...CONCLUSIONS: GI bleeding i …
The patients with Coats plus and those without Coats plus had similar clinical features and courses. Angiodysplasia of the stomach an …
Motor Abnormalities and Epilepsy in Infants and Children With Evidence of Congenital Zika Virus Infection.
Pessoa A, van der Linden V, Yeargin-Allsopp M, Carvalho MDCG, Ribeiro EM, Van Naarden Braun K, Durkin MS, Pastula DM, Moore JT, Moore CA. Pessoa A, et al. Pediatrics. 2018 Feb;141(Suppl 2):S167-S179. doi: 10.1542/peds.2017-2038F. Epub 2018 Feb 1. Pediatrics. 2018. PMID: 29437050 Review.
Initial reports of congenital Zika virus (ZIKV) infection focused on microcephaly at birth with severe brain anomalies; the phenotype has broadened to include microcephaly that develops after birth and neurodevelopmental sequelae. ...Specific sc …
Initial reports of congenital Zika virus (ZIKV) infection focused on microcephaly at birth with severe brain anomalies; …
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C, Fusco C, Percesepe A, Leuzzi V, Pisani F. Spagnoli C, et al. Int J Mol Sci. 2021 Apr 18;22(8):4202. doi: 10.3390/ijms22084202. Int J Mol Sci. 2021. PMID: 33919646 Free PMC article.
A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic and myoclonic, but also focal motor seizures and a hyperkinetic MD in 89% of conditions, with neonatal onset in 22%, were identified. . …
A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic an …
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Mo A, Paz-Ebstein E, Yanovsky-Dagan S, Lai A, Mor-Shaked H, Gilboa T, Yang E, Shao DD, Walsh CA, Harel T. Mo A, et al. Clin Genet. 2023 Jul;104(1):73-80. doi: 10.1111/cge.14335. Epub 2023 Apr 2. Clin Genet. 2023. PMID: 37005340 Free PMC article.
Through exome sequencing and Matchmaker Exchange, we identified two unrelated individuals with the same recurrent, de novo heterozygous variant (NM_016359.5 c.1209C > A; p.(Tyr403Ter)) in NUSAP1. Both individuals had microcephaly, severe developmental delay, brain …
Through exome sequencing and Matchmaker Exchange, we identified two unrelated individuals with the same recurrent, de novo heterozygous vari …
Natural history of non-lethal Raine syndrome during childhood.
Mameli C, Zichichi G, Mahmood N, Elalaoui SC, Mirza A, Dharmaraj P, Burrone M, Cattaneo E, Sheth J, Gandhi A, Kochar GS, Alkuraya FS, Kabra M, Mercurio G, Zuccotti G. Mameli C, et al. Orphanet J Rare Dis. 2020 Apr 16;15(1):93. doi: 10.1186/s13023-020-01373-0. Orphanet J Rare Dis. 2020. PMID: 32299476 Free PMC article.
BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. ...The most common neonatal comorbidity was respiratory distress secondary to choanal atresia. A variable degree of neurodevelopmental de …
BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. ...T …
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967 Free article.
METHODS: We retrospectively collected the clinical and molecular information on 13 families with ASNSD from the major metabolic clinics in Saudi Arabia. RESULTS: The major phenotypes included congenital microcephaly (100%), facial dysmorphism (100%), global developm …
METHODS: We retrospectively collected the clinical and molecular information on 13 families with ASNSD from the major metabolic clinics in S …
46 results