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

Year Number of Results
1987 1
1990 1
1994 3
1995 1
1996 3
1997 2
1998 1
1999 1
2000 1
2002 4
2003 2
2004 2
2005 5
2006 1
2007 1
2008 5
2009 1
2010 2
2011 5
2012 7
2013 5
2014 4
2015 9
2016 7
2017 7
2019 7
2020 7
2021 15
2022 12
2023 18
2024 11

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133 results

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Page 1
West syndrome: a comprehensive review.
Pavone P, Polizzi A, Marino SD, Corsello G, Falsaperla R, Marino S, Ruggieri M. Pavone P, et al. Neurol Sci. 2020 Dec;41(12):3547-3562. doi: 10.1007/s10072-020-04600-5. Epub 2020 Aug 22. Neurol Sci. 2020. PMID: 32827285 Free PMC article. Review.
Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have …
Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1 …
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. ...
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disabili …
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y, So V, Tijssen MAJ, Verbeek DS, Reggiori F, Mauthe M. Cong Y, et al. Autophagy. 2021 Dec;17(12):3908-3923. doi: 10.1080/15548627.2021.1899669. Epub 2021 Apr 12. Autophagy. 2021. PMID: 33843443 Free PMC article. Review.
., ss-propeller protein associated neurodegeneration, Rett-like syndrome, intellectual disability, and epileptic encephalopathies including developmental and epileptic encephalopathy, early-onset epileptic encephalopathy and West s …
., ss-propeller protein associated neurodegeneration, Rett-like syndrome, intellectual disability, and epileptic encephalopathies …
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
Bayat A, Bayat M, Rubboli G, Møller RS. Bayat A, et al. Genes (Basel). 2021 Jul 8;12(7):1051. doi: 10.3390/genes12071051. Genes (Basel). 2021. PMID: 34356067 Free PMC article. Review.
These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devastating developmental and epileptic encephalopathies (DEEs). Genetic heterogeneity is seen in many epilepsy syndro …
These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devast …
Hippocampus and epilepsy: Findings from human tissues.
Huberfeld G, Blauwblomme T, Miles R. Huberfeld G, et al. Rev Neurol (Paris). 2015 Mar;171(3):236-51. doi: 10.1016/j.neurol.2015.01.563. Epub 2015 Feb 25. Rev Neurol (Paris). 2015. PMID: 25724711 Free PMC article. Review.
Surgical removal of the epileptogenic zone provides an effective therapy for several focal epileptic syndromes. This surgery offers the opportunity to study pathological activity in living human tissue for pharmacoresistant partial epilepsy syndromes including tempo …
Surgical removal of the epileptogenic zone provides an effective therapy for several focal epileptic syndromes. This surgery offers t …
CHD2-Related CNS Pathologies.
Wilson MM, Henshall DC, Byrne SM, Brennan GP. Wilson MM, et al. Int J Mol Sci. 2021 Jan 8;22(2):588. doi: 10.3390/ijms22020588. Int J Mol Sci. 2021. PMID: 33435571 Free PMC article. Review.
Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. ...These mutations in the CHD2 gene are causative of early onset epileptic encephalopathy, abn …
Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental …
Neurologic complications of Down syndrome: a systematic review.
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS. Santoro JD, et al. J Neurol. 2021 Dec;268(12):4495-4509. doi: 10.1007/s00415-020-10179-w. Epub 2020 Sep 12. J Neurol. 2021. PMID: 32920658 Review.
Seventeen clinical conditions were grouped under the following subjects: hypotonia, intellectual and learning disability, cervical instability, autism spectrum disorder, epilepsy, cerebrovascular disease, Alzheimer's disease and neuropsychiatric disease. ...
Seventeen clinical conditions were grouped under the following subjects: hypotonia, intellectual and learning disability, cervical instabili …
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC. Veroniki AA, et al. BMJ Open. 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. BMJ Open. 2017. PMID: 28729328 Free PMC article. Review.
PRIMARY AND SECONDARY OUTCOME MEASURES: Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit hyperactivity disorder, language delay, neonatal seizures, psychomotor developmental delay and social impairment were secondary outcom …
PRIMARY AND SECONDARY OUTCOME MEASURES: Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit h …
Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.
Paprocka J, Kaminiów K, Yetkin O, Tekturk P, Baykan B, Leiz S, Kluger G, Striano P. Paprocka J, et al. Seizure. 2024 Mar;116:14-23. doi: 10.1016/j.seizure.2022.12.001. Epub 2022 Dec 8. Seizure. 2024. PMID: 36526544 Review.
Seizures tend to occur in over 90% of patients, with onset within the first 3 years of life, and a peak incidence at around 6-12 months of age. Approximately 20% of patients had the first seizure onset within the first 6 months of age, almost 50% at 6 to 12 months o …
Seizures tend to occur in over 90% of patients, with onset within the first 3 years of life, and a peak incidence at around 6-12 mont …
SCN2A channelopathies: Mechanisms and models.
Hedrich UBS, Lauxmann S, Lerche H. Hedrich UBS, et al. Epilepsia. 2019 Dec;60 Suppl 3:S68-S76. doi: 10.1111/epi.14731. Epilepsia. 2019. PMID: 31904120 Review.
Variants in the SCN2A gene, encoding the voltage-gated sodium channel Na(V) 1.2, cause a variety of neuropsychiatric syndromes with different severity ranging from self-limiting epilepsies with early onset to developmental and epileptic encephalopathy with ea …
Variants in the SCN2A gene, encoding the voltage-gated sodium channel Na(V) 1.2, cause a variety of neuropsychiatric syndromes with differen …
133 results