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Quoted phrase not found in phrase index: "Infantile-onset periodic fever-panniculitis-dermatosis syndrome"
Page 1
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.
Wilmshurst JM, Gaillard WD, Vinayan KP, Tsuchida TN, Plouin P, Van Bogaert P, Carrizosa J, Elia M, Craiu D, Jovic NJ, Nordli D, Hirtz D, Wong V, Glauser T, Mizrahi EM, Cross JH. Wilmshurst JM, et al. Epilepsia. 2015 Aug;56(8):1185-97. doi: 10.1111/epi.13057. Epub 2015 Jun 30. Epilepsia. 2015. PMID: 26122601 Free article. Review.
Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet syndrome, and other infantile-onset epileptic encephalopathies, should be available in tertiary care (weak evidence, level …
Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet …
Infantile-Onset Fever and Urticaria.
Sukumaran S, Vijayan V. Sukumaran S, et al. JAMA Pediatr. 2017 Nov 1;171(11):1122-1123. doi: 10.1001/jamapediatrics.2017.2531. JAMA Pediatr. 2017. PMID: 28975215 No abstract available.
Clinical recognition and aspects of the cerebral folate deficiency syndromes.
Ramaekers V, Sequeira JM, Quadros EV. Ramaekers V, et al. Clin Chem Lab Med. 2013 Mar 1;51(3):497-511. doi: 10.1515/cclm-2012-0543. Clin Chem Lab Med. 2013. PMID: 23314536 Free article. Review.
Maternal FR antibodies have been associated with neural tube defects while the presence of FR antibodies in either one or both parents increases the risk of an offspring with infantile autism. Recognizable CFD syndromes attributed to FR-antibodies in childhood are infan …
Maternal FR antibodies have been associated with neural tube defects while the presence of FR antibodies in either one or both parents incre …
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Suri D, Rawat A, Jindal AK, Vignesh P, Gupta A, Pilania RK, Joshi V, Arora K, Kumrah R, Anjani G, Aggarwal A, Phadke S, Aboobacker FN, George B, Edison ES, Desai M, Taur P, Gowri V, Pandrowala AA, Bhattad S, Kanakia S, Gottorno M, Ceccherini I, Almeida de Jesus A, Goldbach-Mansky R, Hershfield MS, Singh S. Suri D, et al. Front Immunol. 2021 Mar 19;12:630691. doi: 10.3389/fimmu.2021.630691. eCollection 2021. Front Immunol. 2021. PMID: 33815380 Free PMC article.
Type1 interferonopathies identified in the cohort included patients with Deficiency of Adenosine Deaminase 2 (DADA2) (six patients; five families); STING-associated vasculopathy infantile-onset (SAVI) (three patients, one family); Spondyloenchondro-dysplasia with Im …
Type1 interferonopathies identified in the cohort included patients with Deficiency of Adenosine Deaminase 2 (DADA2) (six patients; five fam …
Phenotypic insights into ADCY5-associated disease.
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS. Chang FC, et al. Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8. Mov Disord. 2016. PMID: 27061943 Free PMC article.
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. ...RESULTS: Five patients had the prev …
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; …
A potential cause of adolescent onset Dyke-Davidoff-Masson syndrome: A case report.
Li Y, Zhang T, Li B, Li J, Wang L, Jiang Z. Li Y, et al. Medicine (Baltimore). 2019 Dec;98(51):e18075. doi: 10.1097/MD.0000000000018075. Medicine (Baltimore). 2019. PMID: 31860957 Free PMC article. Review.
RATIONALE: Dyke-Davidoff-Masson syndrome (DDMS) is a rare syndrome commonly occurring in children and characterized by cerebral hemiatrophy, hypertrophy of the skull, epilepsy, and mental retardation. ...OUTCOMES: Under the medicine treatment of magnesium valproate …
RATIONALE: Dyke-Davidoff-Masson syndrome (DDMS) is a rare syndrome commonly occurring in children and characterized by cerebra …
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Mitta N, Menon RN, McTague A, Radhakrishnan A, Sundaram S, Cherian A, Madhavilatha GK, Mannan AU, Nampoothiri S, Thomas SV. Mitta N, et al. Epilepsy Res. 2020 Oct;166:106398. doi: 10.1016/j.eplepsyres.2020.106398. Epub 2020 Jun 18. Epilepsy Res. 2020. PMID: 32593896
INTRODUCTION: A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developmental-epileptic encephalopathies (DEE) from India. ...CONCLUSIONS: Our study confirms a good yield of genetic testing in neonatal and infa …
INTRODUCTION: A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developme …
Infantile-onset diabetes mellitus: a 1-year follow-up study.
Ganesh R, Arvindkumar R, Vasanthi T. Ganesh R, et al. Clin Pediatr (Phila). 2009 Apr;48(3):271-4. doi: 10.1177/0009922808324950. Epub 2008 Oct 3. Clin Pediatr (Phila). 2009. PMID: 18836058
This study evaluates the clinical profiles and outcomes of children with infantile-onset diabetes mellitus (IODM) (onset at <1 year). Twelve infants with IODM presenting to our hospital from January 2003 to December 2007 are analyzed. ...The median age at onset i …
This study evaluates the clinical profiles and outcomes of children with infantile-onset diabetes mellitus (IODM) (onset at &l …
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM. Brunklaus A, et al. Brain. 2012 Aug;135(Pt 8):2329-36. doi: 10.1093/brain/aws151. Epub 2012 Jun 19. Brain. 2012. PMID: 22719002
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. ...We prospectively collected data on a UK cohort of individuals with Dravet syndrome during a 5-year study …
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel al …
An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome.
Kossoff EH, Ferenc L, Comi AM. Kossoff EH, et al. Epilepsia. 2009 Sep;50(9):2154-7. doi: 10.1111/j.1528-1167.2009.02072.x. Epub 2009 Apr 6. Epilepsia. 2009. PMID: 19389148 Free article.
Over a 5-year period, 77 children and adults with SWS and at least one reported seizure were referred to and evaluated at the Hunter Nelson Sturge-Weber Center at the Kennedy Krieger Institute. ...A characteristic pattern of clustering, intense seizures followed by prolong …
Over a 5-year period, 77 children and adults with SWS and at least one reported seizure were referred to and evaluated at the Hunter …
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