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Malignant migrating partial seizures in infancy.
Coppola G. Coppola G. Handb Clin Neurol. 2013;111:605-9. doi: 10.1016/B978-0-444-52891-9.00062-2. Handb Clin Neurol. 2013. PMID: 23622207 Review.
The main clinical features are seizure onset in the first 6 months of life, occurrence of almost continuous migrating polymorphous focal seizures, associated with multifocal ictal EEG discharges, progressive deterioration of psychomotor development combined with frequent evolutio …
The main clinical features are seizure onset in the first 6 months of life, occurrence of almost continuous migrating polymorphous focal sei …
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM. Johnstone DL, et al. J Inherit Metab Dis. 2020 Nov;43(6):1321-1332. doi: 10.1002/jimd.12278. Epub 2020 Aug 3. J Inherit Metab Dis. 2020. PMID: 32588908 Free PMC article. Review.
We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. ...Pathogenic …
We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encep …
A novel type of familial proximal axonal dystrophy: three cases and a review of the axonal dystrophies.
Carpenter S, Soares H, Brandão O, Souto Moura C, Castro L, Rodrigues E, Cunha AL, Bartosch C. Carpenter S, et al. Eur J Paediatr Neurol. 2012 May;16(3):292-300. doi: 10.1016/j.ejpn.2011.08.010. Epub 2011 Sep 16. Eur J Paediatr Neurol. 2012. PMID: 21925911 Review.
Three related infants of Roma ancestry, two of them siblings, showed hypotonia, predominantly axial, from birth, difficulty swallowing, myoclonic seizures, and respiratory difficulty. ...Sprouting of axons from the surface of many spheroids was seen. This disease is …
Three related infants of Roma ancestry, two of them siblings, showed hypotonia, predominantly axial, from birth, difficulty sw …
[Pompe disease treated with enzyme replacement therapy in pregnancy].
Grosz Z, Várdi KV, Molnár JM. Grosz Z, et al. Ideggyogy Sz. 2020 Sep 30;73(9-10):339-344. doi: 10.18071/isz.73.0339. Ideggyogy Sz. 2020. PMID: 33035415 Free article. Review. Hungarian.
Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypotonia and severe cardio-respiratory failure are common leading to death within 2 years if left untreated, while the late-onset form is char …
Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypoton