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Page 1
NGLY1 deficiency: a prospective natural history study.
Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ. Tong S, et al. Hum Mol Genet. 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106. Hum Mol Genet. 2023. PMID: 37379343 Free PMC article.
N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or inte …
N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic …
Non-pharmaceutical management of respiratory morbidity in children with severe global developmental delay.
Winfield NR, Barker NJ, Turner ER, Quin GL. Winfield NR, et al. Cochrane Database Syst Rev. 2014 Oct 19;2014(10):CD010382. doi: 10.1002/14651858.CD010382.pub2. Cochrane Database Syst Rev. 2014. PMID: 25326792 Free PMC article. Review.
BACKGROUND: Children with severe global developmental delay (SGDD) have significant intellectual disability and severe motor impairment; they are extremely limited in their functional movement and are dependent upon others for all activities of daily l …
BACKGROUND: Children with severe global developmental delay (SGDD) have significant intellectual disability and …
A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.
Yi Z, Song Z, Li F, Yang C, Xue J, Li L, Zhang M, Zhang Y. Yi Z, et al. Int J Dev Neurosci. 2022 May;82(3):271-276. doi: 10.1002/jdn.10170. Epub 2022 Feb 3. Int J Dev Neurosci. 2022. PMID: 35080253
The purpose of our paper is to make a definitive diagnosis of a girl with neonatal hypotonia, severe global developmental delay, seizures and mild facial dysmorphism. ...CONCLUSION: Our paper reports a novel variant in the SON gene and provides a defin …
The purpose of our paper is to make a definitive diagnosis of a girl with neonatal hypotonia, severe global developmental …
Seizure and developmental outcomes after hemispherectomy in children and adolescents with intractable epilepsy.
Villarejo-Ortega F, García-Fernández M, Fournier-Del Castillo C, Fabregate-Fuente M, Álvarez-Linera J, De Prada-Vicente I, Budke M, Ruiz-Falcó ML, Pérez-Jiménez MÁ. Villarejo-Ortega F, et al. Childs Nerv Syst. 2013 Mar;29(3):475-88. doi: 10.1007/s00381-012-1949-8. Epub 2012 Nov 1. Childs Nerv Syst. 2013. PMID: 23114926
Pre-surgical language transfer to the right hemisphere was confirmed in a boy with left RE, operated on at 6 years of age. Patients with MCD and vascular lesions already showed severe global developmental delay before surgery, which persists afterwards …
Pre-surgical language transfer to the right hemisphere was confirmed in a boy with left RE, operated on at 6 years of age. Patients with MCD …
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
Kehrer-Sawatzki H, Bäzner U, Krämer J, Lewerenz J, Pfeiffer C. Kehrer-Sawatzki H, et al. J Dtsch Dermatol Ges. 2022 Mar;20(3):273-277. doi: 10.1111/ddg.14707. Epub 2022 Mar 4. J Dtsch Dermatol Ges. 2022. PMID: 35246941 Review.
Furthermore, cutaneous and subcutaneous neurofibromas present at an early age, severe global developmental delay and cognitive disability are pathognomonic for the "NF1 microdeletion syndrome". ...
Furthermore, cutaneous and subcutaneous neurofibromas present at an early age, severe global developmental delay …
Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
Choi SA, Lee HS, Park TJ, Park S, Ko YJ, Kim SY, Lim BC, Kim KJ, Chae JH. Choi SA, et al. Brain Dev. 2021 Oct;43(9):912-918. doi: 10.1016/j.braindev.2021.05.009. Epub 2021 Jun 8. Brain Dev. 2021. PMID: 34116881
PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual disability (GDD/ID), facial dysmorphism, epileptic seizures, nonepileptic movement disorders, and ophthalmological problems. ...
PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual di …
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita H, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi JI, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N. Kobayashi Y, et al. Brain Dev. 2021 Apr;43(4):505-514. doi: 10.1016/j.braindev.2020.12.006. Epub 2021 Jan 9. Brain Dev. 2021. PMID: 33436160 Free article.
Compared with females, males had lower levels of attained motor development and more severe cerebral atrophy on MRI. CONCLUSION: Our patients showed more severe global developmental delay than those in previous studies and had intractable epilepsy, lik …
Compared with females, males had lower levels of attained motor development and more severe cerebral atrophy on MRI. CONCLUSION: Our patient …
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Feng J, Yang C, Zhu L, Zhang Y, Zhao X, Chen C, Chen QX, Shu Q, Jiang P, Tong F. Feng J, et al. Orphanet J Rare Dis. 2021 Sep 20;16(1):392. doi: 10.1186/s13023-021-02018-6. Orphanet J Rare Dis. 2021. PMID: 34544473 Free PMC article. Review.
Notably, one case harbored both ACAD8 compound heterozygous variants and a KMT2A de novo variant (c.2739del, p.E914Rfs*35), with IBDD and Wiedemann-Steiner syndrome together, had exact severe global developmental delay. All patients were regularly moni …
Notably, one case harbored both ACAD8 compound heterozygous variants and a KMT2A de novo variant (c.2739del, p.E914Rfs*35), with IBDD and Wi …
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG; Undiagnosed Diseases Network; Phillips JA, Komatsu M, Sweetser DA. Briere LC, et al. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 33811063 Free PMC article.
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K. Kortüm F, et al. Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20. Eur J Hum Genet. 2018. PMID: 29463858 Free PMC article.
The main clinical manifestations in the eight new patients and 17 previously reported individuals with biallelic AMPD2 variants were postnatal microcephaly, severe global developmental delay, spasticity, and central visual impairment. ...
The main clinical manifestations in the eight new patients and 17 previously reported individuals with biallelic AMPD2 variants were postnat …
22 results