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

Year Number of Results
1976 1
1980 1
1981 1
1983 1
1984 2
1986 1
1987 4
1988 1
1989 2
1990 1
1991 6
1993 5
1994 2
1995 4
1996 4
1997 2
1998 4
1999 3
2000 7
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2002 8
2003 3
2004 7
2005 2
2006 9
2007 17
2008 7
2009 11
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2011 5
2012 8
2013 12
2014 17
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2023 8
2024 2

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301 results

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Page 1
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical features have not been observed so far. Here, we harmonized clinical data across 534 individuals with STXBP1-related disorders and analysed 19 973 …
However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical features have …
A reliable interictal EEG grading scale for children with infantile spasms - The 2021 BASED score.
Mytinger JR, Vidaurre J, Moore-Clingenpeel M, Stanek JR, Albert DVF. Mytinger JR, et al. Epilepsy Res. 2021 Jul;173:106631. doi: 10.1016/j.eplepsyres.2021.106631. Epub 2021 Apr 2. Epilepsy Res. 2021. PMID: 33839516 Free article.
Data were used to finalize the 2021 BASED (Burden of AmplitudeS and Epileptiform Discharges) score. RESULTS: All elements included in the 2021 BASED score had moderate to near perfect IRR. ...SIGNIFICANCE: The 2021 BASED score includes elements with high leve …
Data were used to finalize the 2021 BASED (Burden of AmplitudeS and Epileptiform Discharges) score. RESULTS: All elements included in …
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; (ii) in non-EIMFS developmental and epileptic encephalopathies, possible …
In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic s …
Infantile Spasms-Have We Made Progress?
Kelley SA, Knupp KG. Kelley SA, et al. Curr Neurol Neurosci Rep. 2018 Apr 19;18(5):27. doi: 10.1007/s11910-018-0832-8. Curr Neurol Neurosci Rep. 2018. PMID: 29671077 Review.
Studies have suggested that we are not consistent in our recognition of hypsarrhythmia, while additional studies suggest that the presence or absence of this pattern may not have any predictive value. Additionally, the use of appropriate medications as well as an early dia …
Studies have suggested that we are not consistent in our recognition of hypsarrhythmia, while additional studies suggest that the presence o …
West Syndrome: A Review and Guide for Paediatricians.
D'Alonzo R, Rigante D, Mencaroni E, Esposito S. D'Alonzo R, et al. Clin Drug Investig. 2018 Feb;38(2):113-124. doi: 10.1007/s40261-017-0595-z. Clin Drug Investig. 2018. PMID: 29086890 Review.
West syndrome (WS), also known as infantile spasms, occurs in infancy with a peak between 4 and 7 months. ...VGB is generally administered at doses from 50 to 150 mg/kg/day, but its related retinal toxicity, which occurs in 21-34% of infants, is most frequently o …
West syndrome (WS), also known as infantile spasms, occurs in infancy with a peak between 4 and 7 months. ...VGB is generally …
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network; Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Parenti I, et al. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. Hum Genet. 2021. PMID: 33944996 Free PMC article.
The most common clinical features included language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%). Epilepsy types were variable, with West syndrome observed in three patients, generalized tonic …
The most common clinical features included language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%) …
Infantile spasms.
Wong M, Trevathan E. Wong M, et al. Pediatr Neurol. 2001 Feb;24(2):89-98. doi: 10.1016/s0887-8994(00)00238-1. Pediatr Neurol. 2001. PMID: 11275456 Review.
Standardization of the classification of infantile spasms has evolved, culminating in recent recommendations for separately recognizing and distinguishing the seizure type (spasms or epileptic spasms) and the epilepsy syndrome of infantile spasms (West syndrome). Mo …
Standardization of the classification of infantile spasms has evolved, culminating in recent recommendations for separately recognizing and …
Cardiometabolic outcomes in children and adolescents with West syndrome.
Gilboa I, Israeli G, Brener A, Yackobovitch-Gavan M, Kramer U, Uliel-Sibony S, Lebenthal Y. Gilboa I, et al. BMC Pediatr. 2021 Sep 18;21(1):412. doi: 10.1186/s12887-021-02871-1. BMC Pediatr. 2021. PMID: 34537045 Free PMC article.
BACKGROUND: West syndrome is a convulsive disorder of infancy with unique seizures and a characteristic background electroencephalograph pattern. ...CONCLUSIONS: Children with West syndrome apparently have an increased prevalence of cardiometabolic der …
BACKGROUND: West syndrome is a convulsive disorder of infancy with unique seizures and a characteristic background electroence …
Effectiveness and Safety of Nitrazepam in Children with Resistant West Syndrome.
Zahan S, Sahu JK, Madaan P, Suthar R, Pattanaik S, Saini AG, Saini L, Kumar A, Sankhyan N. Zahan S, et al. Indian J Pediatr. 2022 Jan;89(1):37-44. doi: 10.1007/s12098-021-03823-4. Epub 2021 Jun 24. Indian J Pediatr. 2022. PMID: 34169452
OBJECTIVES: To study the effectiveness, tolerability, and safety of oral nitrazepam in children with resistant West syndrome (WS). METHODS: This prospective observational study was conducted at a tertiary care hospital in North India from January 2019 to Octo …
OBJECTIVES: To study the effectiveness, tolerability, and safety of oral nitrazepam in children with resistant West syndrome ( …
Epileptic syndromes in childhood.
Aicardi J. Aicardi J. Epilepsia. 1988;29 Suppl 3:S1-5. doi: 10.1111/j.1528-1157.1988.tb05803.x. Epilepsia. 1988. PMID: 3066614 Review.
Still others are rather loose collections of a few common characteristics irregularly linked together. Widely accepted syndromes in childhood include the West syndrome and Lennox-Gastaut syndromes, several myoclonic syndromes, febrile seizures of infancy, absence ep …
Still others are rather loose collections of a few common characteristics irregularly linked together. Widely accepted syndromes in childhoo …
301 results