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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"
Page 1
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous v …
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental dela …
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.
Karaer K, Karaer D, Yüksel Z, Işikay S. Karaer K, et al. Clin Dysmorphol. 2022 Oct 1;31(4):167-173. doi: 10.1097/MCD.0000000000000426. Epub 2022 Jul 14. Clin Dysmorphol. 2022. PMID: 36004946
Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, a …
Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopm …
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 …
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.
Affected individuals show psychomotor delay and intellectual disability of variable severity, microcephaly, corpus callosum and white matter abnormalities, seizures, spasticity, short stature, muscle fatigability and weakness. ...In vivo studies of abcc9 loss …
Affected individuals show psychomotor delay and intellectual disability of variable severity, microcephaly, corpus callosum and white …
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
Fattal-Valevski A, Ben Sira L, Lerman-Sagie T, Strausberg R, Bloch-Mimouni A, Edvardson S, Kaufman R, Chernuha V, Schneebaum Sender N, Heimer G, Ben Zeev B. Fattal-Valevski A, et al. Eur J Paediatr Neurol. 2021 May;32:40-45. doi: 10.1016/j.ejpn.2020.08.011. Epub 2021 Mar 5. Eur J Paediatr Neurol. 2021. PMID: 33756211
BACKGROUND: and Purpose: Postnatal progressive microcephaly, with seizures and brain atrophy (OMIM # 613668) is a rare disorder caused by a homozygous founder missense mutation c.1112T>C (p.L371P) in the MED17 gene on chromosome 11 that was identifi …
BACKGROUND: and Purpose: Postnatal progressive microcephaly, with seizures and brain atrophy (OMIM # 613668) is a rare …
Sleep disturbance in Mowat-Wilson syndrome.
Evans E, Mowat D, Wilson M, Einfeld S. Evans E, et al. Am J Med Genet A. 2016 Mar;170(3):654-60. doi: 10.1002/ajmg.a.37502. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686679
It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirs …
It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features includin …
Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Edwards SD, et al. Am J Med Genet A. 2021 May;185(5):1388-1398. doi: 10.1002/ajmg.a.62104. Epub 2021 Feb 11. Am J Med Genet A. 2021. PMID: 33576134
Statistical analysis was performed using Fisher's exact test to compare clinical features among study subjects. Common features in our cohort include microcephaly (51.2%), seizures (29.8%), developmental delay (74.5%), failure to thrive (FTT) (68.1%), dysmorphic fea …
Statistical analysis was performed using Fisher's exact test to compare clinical features among study subjects. Common features in our cohor …
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. ...Among infan …
Initial reports of congenital Zika virus (ZIKV) infection focused on microcephaly at birth with severe brain anomalies; …
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K. Matsuo M, et al. Brain Dev. 2017 Feb;39(2):177-181. doi: 10.1016/j.braindev.2016.08.008. Epub 2016 Sep 23. Brain Dev. 2017. PMID: 27670155
We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. ...The epileptic focus was consistent with the reduced frontal lo …
We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean bo …
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Hampshire K, Martin PM, Carlston C, Slavotinek A. Hampshire K, et al. Am J Med Genet A. 2020 Aug;182(8):1923-1932. doi: 10.1002/ajmg.a.61637. Epub 2020 Jun 7. Am J Med Genet A. 2020. PMID: 32506774
Baraitser-Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and …
Baraitser-Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disabilit …
95 results