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Quoted phrase not found in phrase index: "Cerebellar atrophy with seizures and variable developmental delay"
Page 1
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
OBJECTIVE: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. ...RESULTS: we collected 34 patients (29 females) showing from moderate (4 pat …
OBJECTIVE: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainste …
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J. Alhaddad B, et al. Neuropediatrics. 2018 Oct;49(5):330-338. doi: 10.1055/s-0038-1661396. Epub 2018 Jun 25. Neuropediatrics. 2018. PMID: 29940663
All patients who survived beyond the first 6 months of life had early-onset global developmental delay, bilateral spastic paresis, dysphagia and difficult-to-treat seizures, while congenital or later-evolving microcephaly was not a consistent finding. Brain M …
All patients who survived beyond the first 6 months of life had early-onset global developmental delay, bilateral spastic pare …
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
Kjaergaard S, Schwartz M, Skovby F. Kjaergaard S, et al. Arch Dis Child. 2001 Sep;85(3):236-9. doi: 10.1136/adc.85.3.236. Arch Dis Child. 2001. PMID: 11517108 Free PMC article.
Mental retardation, ataxia, muscular atrophy, and febrile seizures were consistent features after infancy. Variable features included pericardial effusions, afebrile seizures, and stroke like episodes. ...
Mental retardation, ataxia, muscular atrophy, and febrile seizures were consistent features after infancy. Variable fea …
Natural history of Christianson syndrome.
Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. Schroer RJ, et al. Am J Med Genet A. 2010 Nov;152A(11):2775-83. doi: 10.1002/ajmg.a.33093. Am J Med Genet A. 2010. PMID: 20949524 Free PMC article.
Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. ...They a …
Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global d …
Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.
Latimer CS, Flanagan ME, Cimino PJ, Jayadev S, Davis M, Hoffer ZS, Montine TJ, Gonzalez-Cuyar LF, Bird TD, Keene CD. Latimer CS, et al. J Huntingtons Dis. 2017;6(4):337-348. doi: 10.3233/JHD-170261. J Huntingtons Dis. 2017. PMID: 29036832 Free PMC article.
Here we report a case of a six-year-old boy with paternally-inherited JHD caused by 169 CAG trinucleotide repeats who presented at age four with developmental delay, dysarthria, and seizures before dying at age 6. ...RESULTS: Both cases had neuropathology cor …
Here we report a case of a six-year-old boy with paternally-inherited JHD caused by 169 CAG trinucleotide repeats who presented at age four …
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. ...Our patient presented with developmental delay, nyst …
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, …