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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"
Page 1
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
RESULTS: The c.1287+5G>A variant leads to a phenotype characterised by early onset muscle weakness, movement disorder, intellectual disability and elevated serum creatine kinase, which is similar to other series. As novel clinical findings, we found that micro …
RESULTS: The c.1287+5G>A variant leads to a phenotype characterised by early onset muscle weakness, movement disorder, inte …
Natural course of pontocerebellar hypoplasia type 2A.
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I. Sánchez-Albisua I, et al. Orphanet J Rare Dis. 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. Orphanet J Rare Dis. 2014. PMID: 24886362 Free PMC article.
INTRODUCTION: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in t …
INTRODUCTION: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ven …
GRM7-related disorder: five additional patients from three independent families and review of the literature.
Januel L, Chatron N, Rivier-Ringenbach C, Cabet S, Labalme A, Sahin Y, Darvish H, Kruer M, Bakhtiari S, Sanlaville D, de Sainte Agathe JM, Lesca G. Januel L, et al. Eur J Med Genet. 2024 Feb;67:104893. doi: 10.1016/j.ejmg.2023.104893. Epub 2023 Dec 8. Eur J Med Genet. 2024. PMID: 38070825 Free article. Review.
Developmental and epileptic encephalopathies (DEEs) refer to a group of severe epileptic syndromes characterized by seizures as well as a developmental delay which can be a consequence of the underlying etiology and/or the epileptic encephalopathy. ...To date, only ten pat …
Developmental and epileptic encephalopathies (DEEs) refer to a group of severe epileptic syndromes characterized by seizures as well …
Mirtazapine for sleep disturbances in Angelman syndrome: a retrospective chart review of 8 pediatric cases.
Hanzlik E, Klinger SA, Carson R, Duis J. Hanzlik E, et al. J Clin Sleep Med. 2020 Apr 15;16(4):591-595. doi: 10.5664/jcsm.8284. J Clin Sleep Med. 2020. PMID: 32022663 Free PMC article.
STUDY OBJECTIVES: Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterized by developmental delay, intellectual disability, seizures, a characteristic happy personality, gait ataxia, tremulousness of the limbs, microcephaly, a …
STUDY OBJECTIVES: Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterized by developmental delay, i …
Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.
Manoochehri J, Goodarzi HR, Tabei SMB. Manoochehri J, et al. J Genet. 2022;101:40. J Genet. 2022. PMID: 36226339 Free article.
Spastic paraplegia 51 (SPG51) is a neurodevelopmental condition that is caused by autosomal recessive mutations in the adaptor protein complex 4 complex subunit 1 (AP4E1) gene. ...Here, we describe a patient from a consanguineous marriage who manifested severe intellectual …
Spastic paraplegia 51 (SPG51) is a neurodevelopmental condition that is caused by autosomal recessive mutations in the adaptor protei …
Angelman syndrome: Mutations influence features in early childhood.
Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Tan WH, et al. Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775. Am J Med Genet A. 2011. PMID: 21204213 Free PMC article.
Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. ...Frequent, easily provoked laughter was observed in 60%. Clinical seizures were reported in 65% of participants but all electroencephalogra …
Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. ...Frequ …
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. van Bon BW, et al. Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24. Mol Psychiatry. 2016. PMID: 25707398 Free PMC article.
Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation events (n=7), identified a syndromal disorder among the 15 patients. It was characterized by ID, ASD, microcephaly, intrauterine g …
Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation even …
Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits.
Barkovich AJ, Kjos BO. Barkovich AJ, et al. AJNR Am J Neuroradiol. 1992 Jan-Feb;13(1):95-103. AJNR Am J Neuroradiol. 1992. PMID: 1375803 Free PMC article.
RESULT: The five patients with diffuse cortical dysplasia, including two with congenital infections, had microcephaly and severe development delay from a very early age. Infantile spasms occurred in three of the five. ...CONCLUSION: Surgical resection of focal areas of cor …
RESULT: The five patients with diffuse cortical dysplasia, including two with congenital infections, had microcephaly and severe deve …
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
All patients rapidly developed a neonatal or early-infantile epileptic encephalopathy with intractable seizures. The long-term follow-up revealed a virtual absence of psychomotor development, progressive microcephaly, and feeding difficulties. ...Clinical and neuroi …
All patients rapidly developed a neonatal or early-infantile epileptic encephalopathy with intractable seizures. The long-term follow …
Clinical characteristics of 10 patients with continuous spikes and waves during slow sleep syndrome.
Hergüner MO, Incecik F, Altunbaşak S, Kiriş N. Hergüner MO, et al. Pediatr Neurol. 2008 Jun;38(6):411-4. doi: 10.1016/j.pediatrneurol.2008.02.007. Pediatr Neurol. 2008. PMID: 18486823
All patients had predominantly nocturnal partial motor or generalized tonic-clonic seizures; four patients also had daily atonic seizures. All 10 patients had different degrees of neuropsychologic disturbances: 9 patients had low intelligence quotient scores (the 10 …
All patients had predominantly nocturnal partial motor or generalized tonic-clonic seizures; four patients also had daily atonic s …
15 results