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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
1968 1
1969 1
1974 3
1976 2
1977 1
1978 1
1981 2
1982 1
1983 1
1984 1
1985 2
1986 1
1988 2
1989 2
1990 1
1991 4
1992 5
1993 8
1994 3
1995 1
1996 4
1997 9
1998 3
1999 10
2000 6
2001 2
2002 5
2003 9
2004 2
2005 5
2006 9
2007 10
2008 17
2009 15
2010 17
2011 12
2012 18
2013 20
2014 14
2015 11
2016 16
2017 21
2018 18
2019 27
2020 25
2021 22
2022 20
2023 17
2024 7

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368 results

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Quoted phrase not found in phrase index: "Optic atrophy 10 with or without ataxia, intellectual disability, and seizures"
Page 1
Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR, Fan X, Shen Y, Chung WK. Lipman AR, et al. Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. Epub 2022 Jun 26. Clin Genet. 2022. PMID: 35722745 Free PMC article.
Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. ...Commonly reported phenotypes include developmental delay/intellectual disability (96%), hemiplegic …
Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocere …
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM. Reynolds C, et al. Eur J Paediatr Neurol. 2020 Jan;24:117-122. doi: 10.1016/j.ejpn.2019.12.016. Epub 2019 Dec 12. Eur J Paediatr Neurol. 2020. PMID: 31924505 Review.
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder and intellectual disa …
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathi …
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. Vetro A, et al. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529
Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinso …
Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, hav …
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
RESULTS: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. The disease course was milder in patients with POLR3B than in patients with POLR3A mutations. ...Systematic MRI review revealed …
RESULTS: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 y …
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks. Alternatively, patients show a chronic course with aversion for protein rich foods, developmental delay/intellectual disability, myoclonic seizure …
Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks. Alternatively, patients show a …
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Valayannopoulos V, et al. Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Orphanet J Rare Dis. 2010. PMID: 20385007 Free PMC article. Review.
Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is genera …
Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing …
Optic Nerve Atrophy in Syndromic Craniosynostosis.
Fearon JA, Barrientos S, Ditthakasem K, Herbert M. Fearon JA, et al. Plast Reconstr Surg. 2022 Aug 1;150(2):381e-386e. doi: 10.1097/PRS.0000000000009367. Epub 2022 Jun 8. Plast Reconstr Surg. 2022. PMID: 35671456 Review.
Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive fa …
Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought t …
From genotype to phenotype in Dravet disease.
Gataullina S, Dulac O. Gataullina S, et al. Seizure. 2017 Jan;44:58-64. doi: 10.1016/j.seizure.2016.10.014. Epub 2016 Oct 21. Seizure. 2017. PMID: 27817982 Free article. Review.
Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. ...Generalized tonic-clonic and tonic seizures in sleep predominate in adulthood. Non epileptic manifestations appear with age, including …
Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. ...Gen …
Treatment With Erythropoietin for Patients With Optic Neuritis: Long-term Follow-up.
Küchlin S, Ihorst G, Grotejohann B, Beisse F, Heinrich SP, Albrecht P, Ungewiss J, Wörner M, Hug MJ, Wolf S, Diem R, Lagrèze WA; TONE Study Group. Küchlin S, et al. Neurol Neuroimmunol Neuroinflamm. 2023 Apr 24;10(4):e200067. doi: 10.1212/NXI.0000000000200067. Print 2023 Jul. Neurol Neuroimmunol Neuroinflamm. 2023. PMID: 37094997 Free PMC article.
We assessed its long-term safety and efficacy as an adjunct to methylprednisolone in patients with optic neuritis and focused on conversions to multiple sclerosis (MS). ...The adjusted treatment difference of peripapillary retinal nerve fiber layer atrophy in relati …
We assessed its long-term safety and efficacy as an adjunct to methylprednisolone in patients with optic neuritis and focused on conv …
Idiopathic intracranial hypertension in atypical demographics.
Donaldson L, Jhaveri A, Micieli J, Margolin E. Donaldson L, et al. J Neurol Sci. 2022 Jun 15;437:120271. doi: 10.1016/j.jns.2022.120271. Epub 2022 Apr 29. J Neurol Sci. 2022. PMID: 35525063
Older patients presented with headache less often than typical patients (42.9% versus 77.2%). Opening pressure on lumbar puncture (LP) and degree of optic disc edema were not significantly different between groups, though men had worse mean deviation (MD) on visual fields …
Older patients presented with headache less often than typical patients (42.9% versus 77.2%). Opening pressure on lumbar puncture (LP) and d …
368 results