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1977 1
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1987 1
1988 1
1990 2
1992 1
1994 1
1995 1
1996 1
1997 2
1998 3
2000 1
2001 1
2003 2
2005 1
2006 3
2007 1
2009 1
2010 2
2012 1
2013 1
2014 3
2015 1
2016 3
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2024 0

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Page 1
What is West syndrome?
Dulac O. Dulac O. Brain Dev. 2001 Nov;23(7):447-52. doi: 10.1016/s0387-7604(01)00268-6. Brain Dev. 2001. PMID: 11701238 Review.
In the present understanding of pathophysiology, spasms seem to involve subcortical structures, whereas hypsarrhythmia affects cortical areas, also causing psychomotor deterioration. Deafferentation of subcortical structures by the continuous spiking and slow wave a …
In the present understanding of pathophysiology, spasms seem to involve subcortical structures, whereas hypsarrhythmia affects cortical area …
Radiographic features of fucosidosis.
Lee FA, Donnell GN, Gwinn JL. Lee FA, et al. Pediatr Radiol. 1977;5(4):204-8. doi: 10.1007/BF00972177. Pediatr Radiol. 1977. PMID: 122443
Fucosidosis is an uncommonly recognized lysosomal storage disease which presents with psychomotor deterioration and progressing in some cases to death. The roentgenographic findings in five boys from three families are described. ...
Fucosidosis is an uncommonly recognized lysosomal storage disease which presents with psychomotor deterioration and progressin …
Posterior quadrant disconnection surgery for Sturge-Weber syndrome.
Sugano H, Nakanishi H, Nakajima M, Higo T, Iimura Y, Tanaka K, Hosozawa M, Niijima S, Arai H. Sugano H, et al. Epilepsia. 2014 May;55(5):683-689. doi: 10.1111/epi.12547. Epub 2014 Feb 22. Epilepsia. 2014. PMID: 24621276 Free article.
OBJECTIVE: Some patients with Sturge-Weber syndrome (SWS) need epilepsy surgery for adequate seizure control and prevention of psychomotor deterioration. The majority of patients with SWS have leptomeningeal angioma located over the temporal, parietal, and occipital …
OBJECTIVE: Some patients with Sturge-Weber syndrome (SWS) need epilepsy surgery for adequate seizure control and prevention of psychomoto …
Neuronal ceroid lipofuscinoses: a review.
Nardocci N, Cardona F. Nardocci N, et al. Ital J Neurol Sci. 1998 Oct;19(5):271-6. doi: 10.1007/BF00713852. Ital J Neurol Sci. 1998. PMID: 10933446 Review.
Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegenerative diseases in childhood but rarely present in adulthood. The main symptoms are psychomotor deterioration, visual failure, epilepsy and motor disturbances. The NCLs are morphologically ch …
Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegenerative diseases in childhood but rarely present in adulthood. The …
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.
Hedberg-Oldfors C, Mitra S, Molinaro A, Visuttijai K, Fogelstrand L, Oldfors A, Sterky FH, Darin N. Hedberg-Oldfors C, et al. Eur J Hum Genet. 2023 Aug;31(8):887-894. doi: 10.1038/s41431-023-01327-7. Epub 2023 Mar 20. Eur J Hum Genet. 2023. PMID: 36935417 Free PMC article.
Here, we describe a family with two out of seven siblings affected by a disease characterized by congenital cataract, global developmental delay, myopathy and psychomotor deterioration, seizures and periodic anemia associated with upper respiratory tract infections. …
Here, we describe a family with two out of seven siblings affected by a disease characterized by congenital cataract, global developmental d …
Infantile spasms (West syndrome) in children with inborn errors of metabolism: a review of the literature.
Gkampeta A, Pavlou E. Gkampeta A, et al. J Child Neurol. 2012 Oct;27(10):1295-301. doi: 10.1177/0883073812448532. Epub 2012 Jul 25. J Child Neurol. 2012. PMID: 22832779 Review.
West syndrome (infantile spasms) is an epileptic encephalopathy that includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. ...
West syndrome (infantile spasms) is an epileptic encephalopathy that includes psychomotor deterioration. In rare cases, it is …
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
Ge L, Li HY, Hai Y, Min L, Xing L, Min J, Shu HX, Mei OY, Hua L. Ge L, et al. J Child Neurol. 2018 Nov;33(13):837-850. doi: 10.1177/0883073818789024. Epub 2018 Sep 28. J Child Neurol. 2018. PMID: 30264640 Review.
In China, the age of onset in 3 patients was 5 years, but for 1 patient it was at 17 months. Four Chinese patients presented psychomotor deterioration and seizures; only 1 had visual problems....
In China, the age of onset in 3 patients was 5 years, but for 1 patient it was at 17 months. Four Chinese patients presented psychomotor …
Rett syndrome: case reports and review.
McIntosh RP, Simatos D, Weston HJ, Stanley TV. McIntosh RP, et al. N Z Med J. 1990 Mar 28;103(886):122-5. N Z Med J. 1990. PMID: 2181354 Review.
Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. ...
Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinic …
Batten disease: four genes and still counting.
Mole SE. Mole SE. Neurobiol Dis. 1998 Nov;5(5):287-303. doi: 10.1006/nbdi.1998.0209. Neurobiol Dis. 1998. PMID: 10069573 Review.
They are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage material in many cell types. Clinical features include seizures, psychomotor deterioration, and blindness, the ages and order of onset of which dif …
They are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage material in many cell …
46 results