ORCID Profile
0000-0002-3816-7346
Current Organisations
University of Southampton
,
Southampton University Hospitals NHS Trust
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Publisher: Elsevier BV
Date: 2019
Publisher: Springer Science and Business Media LLC
Date: 08-2016
DOI: 10.1038/NG.3627
Publisher: Elsevier BV
Date: 07-2021
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 09-08-2017
DOI: 10.1212/WNL.0000000000004331
Abstract: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. We identified 9 children 3 to 12 years of age 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms. All children had profound developmental impairment and were nonverbal and nonambulatory, and 7 of 9 required a gastrostomy. A hyperkinetic movement disorder occurred in all and was characterized by dystonia and choreoathetosis with prominent oral dyskinesia and onset from 2 to 20 months of age. Eight had a recurrent missense SCN1A mutation, p.Thr226Met. The remaining child had the missense mutation p.Pro1345Ser. The mutation arose de novo in 8 of 9 for the remaining case, the mother was negative and the father was unavailable. Here, we present a phenotype-genotype correlation for SCN1A . We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus. This disorder has an earlier age at onset, profound developmental impairment, and a distinctive hyperkinetic movement disorder, setting it apart from Dravet syndrome. Remarkably, 8 of 9 children had the recurrent missense mutation p.Thr226Met.
Publisher: Hindawi Limited
Date: 07-06-2011
DOI: 10.1002/HUMU.21512
Publisher: Springer Science and Business Media LLC
Date: 25-01-2017
DOI: 10.1038/NATURE21062
Publisher: Hindawi Limited
Date: 21-03-2016
DOI: 10.1002/HUMU.22983
Publisher: American Academy of Pediatrics (AAP)
Date: 09-2014
Abstract: It is unclear whether the proportion of infants with a disorder of sex development who are raised as male or female has changed over time. The temporal trends in sex assignment of affected cases entered in the International Disorder of Sex Development (I-DSD) Registry were studied. Cases of disorders of sex development reported as partial androgen insensitivity syndrome (PAIS n = 118), disorder of gonadal development (DGD n = 232), and disorder of androgen synthesis (DAS n = 104) were ided into those who were born before 1990, 1990–1999, and after 1999. External appearance of the genitalia was described by the external masculinization score. The median (5th–95th percentile) external masculinization scores of those infants with PAIS, DGD, and DAS who were raised as boys were 6 (2–9), 6 (3–9), and 6 (1–12), respectively, and were significantly higher than in those raised as girls (2 [0–6], 2 [0–7], and 0 [0–5], respectively) this difference was maintained in the 3 temporal birth cohorts (P & .01). Of the 118 cases in the pre-1990 cohort, 41 (35%) were raised as boys of the 148 cases in the 1990–1999 cohort, 60 (41%) were raised as boys and of the 188 cases in the post-1999 cohort, 128 (68%) were raised as boys. Although there is an association between the external appearance of the genitalia and the choice of sex assignment, there are clear temporal trends in this practice pointing toward an increased likelihood of affected infants being raised as boys. The impact of this change in practice on long-term health outcomes requires additional focus.
Publisher: Elsevier BV
Date: 06-2019
Publisher: Hindawi Limited
Date: 30-09-2015
DOI: 10.1002/HUMU.22901
Publisher: Elsevier BV
Date: 04-2015
Publisher: Springer Science and Business Media LLC
Date: 15-02-2019
DOI: 10.1038/S41467-019-08800-2
Abstract: The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
Publisher: Elsevier BV
Date: 05-2020
Publisher: Elsevier BV
Date: 11-2019
Publisher: Elsevier BV
Date: 05-2019
Publisher: Elsevier BV
Date: 2020
Publisher: Springer Science and Business Media LLC
Date: 24-12-2014
DOI: 10.1038/NATURE14135
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for KATHERINE LACHLAN.