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Quoted phrase not found in phrase index: "Infantile-onset periodic fever-panniculitis-dermatosis syndrome"
Page 1
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 …
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.
RESULTS: Five patients had the previously reported p.R418W ADCY5 mutation; we also identified two novel mutations at p.R418G and p.R418Q. All patients presented with motor milestone delay, infantile-onset action-induced generalized choreoathetosis, dystonia, or myoc …
RESULTS: Five patients had the previously reported p.R418W ADCY5 mutation; we also identified two novel mutations at p.R418G and p.R418Q. Al …
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. To date no large studies have systematically examined the prognostic, clinical and demographic features of …
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 …
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
Cuisset JM, Sukno S, Trauffler A, Latour P, Dobbelaere D, Michaud L, Vallée L. Cuisset JM, et al. J Med Case Rep. 2016 Sep 6;10(1):241. doi: 10.1186/s13256-016-1038-9. J Med Case Rep. 2016. PMID: 27599728 Free PMC article.
CASE PRESENTATION: We describe the case of a 16-year-old white French boy with late-infantile-onset Niemann-Pick disease type C who had the unusual presentation of early-onset behavioral disturbance and learning difficulties (aged 5) alongside epileptic seizures. .. …
CASE PRESENTATION: We describe the case of a 16-year-old white French boy with late-infantile-onset Niemann-Pick disease type …
Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.
Hoyme HE, Jones KL, Higginbottom MC, O'Brien JS. Hoyme HE, et al. J Med Genet. 1981 Jun;18(3):237-9. doi: 10.1136/jmg.18.3.237. J Med Genet. 1981. PMID: 6787203 Free PMC article.
A child is presented with mucopolysaccharidosis VII (beta-glucuronidase deficiency), bringing to six the number of reported patients with the infantile onset form of this disorder. This patient exhibited the following features, previously unrecognised as part of thi …
A child is presented with mucopolysaccharidosis VII (beta-glucuronidase deficiency), bringing to six the number of reported patients with th …
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. ...There was no definite abnormality in the ERG-VEP studies which were only carried out in the younger patient. The EEG fea …
Repeated neurophysiological investigations over a six year period are reported in two children with histologically proven Alexander's …