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Year Number of Results
1946 1
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1957 4
1958 2
1959 1
1960 2
1961 1
1963 3
1964 5
1965 2
1966 3
1967 3
1968 1
1969 1
1970 1
1971 4
1972 3
1973 4
1974 4
1975 52
1976 53
1977 46
1978 62
1979 49
1980 64
1981 82
1982 83
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1984 117
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1986 144
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1990 187
1991 226
1992 281
1993 251
1994 275
1995 294
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1998 350
1999 423
2000 472
2001 450
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2003 505
2004 528
2005 643
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2011 1014
2012 1068
2013 1183
2014 1255
2015 1316
2016 1389
2017 1472
2018 1501
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27,718 results

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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"
Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Mice deficient in neuronal betaII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygou …
Mice deficient in neuronal betaII-spectrin have defects in cortical organization, developmental delay and behavioral deficienc …
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics; Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. Guo H, et al. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8. Nat Commun. 2019. PMID: 31616000 Free PMC article.
Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfun …
Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor developm …
Seizure prediction and intervention.
Meisel C, Loddenkemper T. Meisel C, et al. Neuropharmacology. 2020 Aug 1;172:107898. doi: 10.1016/j.neuropharm.2019.107898. Epub 2019 Dec 5. Neuropharmacology. 2020. PMID: 31839204 Review.
Epilepsy treatment is challenging due to a lack of essential diagnostic tools, including methods for reliable seizure detection in the ambulatory setting, to assess seizure risk over time and to monitor treatment efficacy. ...Here, we provide an overview on data- an …
Epilepsy treatment is challenging due to a lack of essential diagnostic tools, including methods for reliable seizure detection in th …
Automated seizure prediction.
Acharya UR, Hagiwara Y, Adeli H. Acharya UR, et al. Epilepsy Behav. 2018 Nov;88:251-261. doi: 10.1016/j.yebeh.2018.09.030. Epub 2018 Oct 11. Epilepsy Behav. 2018. PMID: 30317059 Review.
In recent years, the frontiers of computational epilepsy research have moved to seizure prediction, a more challenging problem. While antiepileptic medication can result in complete seizure freedom in many patients with epilepsy, up to one-third of pat …
In recent years, the frontiers of computational epilepsy research have moved to seizure prediction, a more challenging prob …
Seizure Detection, Prediction, and Forecasting.
Fu A, Lado FA. Fu A, et al. J Clin Neurophysiol. 2024 Mar 1;41(3):207-213. doi: 10.1097/WNP.0000000000001045. J Clin Neurophysiol. 2024. PMID: 38436388 Review.
Among the many fears associated with seizures, patients with epilepsy are greatly frustrated and distressed over seizure's apparent unpredictable occurrence. ...The pattern in rises and falls of seizure rate that varies over 24 hours, weeks, months, an …
Among the many fears associated with seizures, patients with epilepsy are greatly frustrated and distressed over seizure's …
Poststroke seizure: optimising its management.
Xu MY. Xu MY. Stroke Vasc Neurol. 2018 Dec 9;4(1):48-56. doi: 10.1136/svn-2018-000175. eCollection 2019 Mar. Stroke Vasc Neurol. 2018. PMID: 31105979 Free PMC article. Review.
Seizure after stroke or poststroke seizure (PSS) is a common and very important complication of stroke. It can be divided into early seizure and late seizure, depending on seizure onset time after the stroke. ...
Seizure after stroke or poststroke seizure (PSS) is a common and very important complication of stroke. It can be divided into …
Chance and risk in epilepsy.
Baud MO, Proix T, Rao VR, Schindler K. Baud MO, et al. Curr Opin Neurol. 2020 Apr;33(2):163-172. doi: 10.1097/WCO.0000000000000798. Curr Opin Neurol. 2020. PMID: 32049738 Review.
This temporal structure of epilepsy has theoretical implications and argues against the conception of seizures as completely random events. The practical significance of cycles in epilepsy is highlighted by their predictive value in computational models for seizu …
This temporal structure of epilepsy has theoretical implications and argues against the conception of seizures as completely random e …
Clinical seizures and unfavorable brain MRI patterns in neonates with hypoxic ischemic encephalopathy.
Lin YK, Hwang-Bo S, Seo YM, Youn YA. Lin YK, et al. Medicine (Baltimore). 2021 Mar 26;100(12):e25118. doi: 10.1097/MD.0000000000025118. Medicine (Baltimore). 2021. PMID: 33761675 Free PMC article.
Clinical seizure, aEEG, and brain MRI were assessed and compared with neurodevelopmental outcomes at 1824 months of age.Among the 97 HIE infants enrolled in this study with brain MRI scans, 78 (73.1%) TH-treated HIE infants exhibited clinical seizures. More …
Clinical seizure, aEEG, and brain MRI were assessed and compared with neurodevelopmental outcomes at 1824 months of age.Among …
Seizure prediction: methods.
Carney PR, Myers S, Geyer JD. Carney PR, et al. Epilepsy Behav. 2011 Dec;22 Suppl 1(Suppl 1):S94-101. doi: 10.1016/j.yebeh.2011.09.001. Epilepsy Behav. 2011. PMID: 22078526 Free PMC article.
There is great interest in the development of devices that incorporate algorithms capable of detecting early onset of seizures or even predicting them hours before they occur. ...Finally, we illustrate how these techniques can be combined in a closed-loop …
There is great interest in the development of devices that incorporate algorithms capable of detecting early onset of seizures …
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. ...The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor d …
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, …
27,718 results
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