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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"
Page 1
Glut1 deficiency: when to suspect and how to diagnose?
Verrotti A, D'Egidio C, Agostinelli S, Gobbi G. Verrotti A, et al. Eur J Paediatr Neurol. 2012 Jan;16(1):3-9. doi: 10.1016/j.ejpn.2011.09.005. Epub 2011 Oct 1. Eur J Paediatr Neurol. 2012. PMID: 21962875 Review.
A part from this classic phenotype, clinical conditions associated with a deficiency of GLUT1 are highly variable and several atypical variants have been described; in particular, patients with movement disorders, but without seizures, with paroxysmal exertio …
A part from this classic phenotype, clinical conditions associated with a deficiency of GLUT1 are highly variable and several atypical varia …
Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.
Sachdeva R, Donkers SJ, Kim SY. Sachdeva R, et al. Clin Anat. 2016 Jul;29(5):561-7. doi: 10.1002/ca.22659. Epub 2015 Nov 17. Clin Anat. 2016. PMID: 26480021 Review.
Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hy …
Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures …
Genetic and clinical variations of developmental epileptic encephalopathies.
Kaya Özçora GD, Söbü E, Gümüş U. Kaya Özçora GD, et al. Neurol Res. 2023 Mar;45(3):226-233. doi: 10.1080/01616412.2023.2170917. Epub 2023 Feb 2. Neurol Res. 2023. PMID: 36731496
Refractory epilepsy seen in 33% of cases.De-novo mutation, microcephaly and dysmorphic findings accompany resistant seizures and are associated with poor prognosis. DISCUSSION: For patients with movement disorders, developmental delay, autism, and ID w …
Refractory epilepsy seen in 33% of cases.De-novo mutation, microcephaly and dysmorphic findings accompany resistant seizures a …
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L. Andelman-Gur MM, et al. Am J Med Genet A. 2020 Oct;182(10):2207-2213. doi: 10.1002/ajmg.a.61795. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 33001581
Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), …
Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech …
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 …
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Corona-Rivera JR, Martínez-Duncker I, Morava E, Ranatunga W, Salinas-Marin R, González-Jaimes AM, Castillo-Reyes KA, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Orozco-Vela M, Brukman-Jiménez SA. Corona-Rivera JR, et al. Mol Genet Metab. 2024 May;142(1):108469. doi: 10.1016/j.ymgme.2024.108469. Epub 2024 Mar 28. Mol Genet Metab. 2024. PMID: 38564972 Review.
TRAPPC11, a crucial subunit of this complex, is associated with pathogenic variants that cause a spectrum of disease, which can range from a limb girdle muscular dystrophy (LGMD) to developmental disability with muscle disease, movement disorder and global developme …
TRAPPC11, a crucial subunit of this complex, is associated with pathogenic variants that cause a spectrum of disease, which can range from a …
Christianson syndrome: spectrum of neuroimaging findings.
Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A. Bosemani T, et al. Neuropediatrics. 2014 Aug;45(4):247-51. doi: 10.1055/s-0033-1363091. Epub 2013 Nov 27. Neuropediatrics. 2014. PMID: 24285247
Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. The clinical phenotypes of CS and Angelman syndrome (AS) are simil …
Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microc …
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 …
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. van Bon BW, et al. Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809484 Free PMC article.
All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. ...Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should …
All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures …
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 …
31 results