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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 …
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 …
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 …
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.
Giron C, Roze E, Degos B, Méneret A, Jardel C, Lannuzel A, Mochel F. Giron C, et al. Tremor Other Hyperkinet Mov (N Y). 2018 Apr 18;8:554. doi: 10.7916/D8VM5VBQ. eCollection 2018. Tremor Other Hyperkinet Mov (N Y). 2018. PMID: 29686941 Free PMC article.
BACKGROUND: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. PHENOMENOLOGY SHOWN: Progressive and marked dystonia over a 6-year period in an adu …
BACKGROUND: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometa …
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller JS, Lochmüller H. Schara U, et al. Eur J Paediatr Neurol. 2010 Jul;14(4):326-33. doi: 10.1016/j.ejpn.2009.09.009. Epub 2009 Nov 8. Eur J Paediatr Neurol. 2010. PMID: 19900826
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous inherited disorders of the neuromuscular junction. ...Apnoea should be carefully distinguished from seizures; a CMS should be taken into account early to start approp …
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous inherited disorders of the …
Neurophysiological investigations in two cases of Alexander's disease with infantile onset.
Battaglia A, Nardelli E, Pampiglione G, Harden A. Battaglia A, et al. Ital J Neurol Sci. 1980 Jun;1(3):131-8. doi: 10.1007/BF02335842. Ital J Neurol Sci. 1980. PMID: 7341540
Repeated neurophysiological investigations over a six year period are reported in two children with histologically proven Alexander's leucodystrophy. ...
Repeated neurophysiological investigations over a six year period are reported in two children with histologically proven Alexander's …