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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 99"
Page 1
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders study with additional cases contributed by collaborators internationally. ...
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders st …
The current state of epilepsy guidelines: A systematic review.
Sauro KM, Wiebe S, Dunkley C, Janszky J, Kumlien E, Moshé S, Nakasato N, Pedley TA, Perucca E, Senties H, Thomas SV, Wang Y, Wilmshurst J, Jetté N. Sauro KM, et al. Epilepsia. 2016 Jan;57(1):13-23. doi: 10.1111/epi.13273. Epub 2015 Dec 10. Epilepsia. 2016. PMID: 26659723 Free article. Review.
OBJECTIVE: The International League Against Epilepsy (ILAE) Epilepsy Guidelines Task Force, composed of 14 international members, was established in 2011 to identify, using systematic review methodology, international epilepsy clinical care guidelines, assess …
OBJECTIVE: The International League Against Epilepsy (ILAE) Epilepsy Guidelines Task Force, composed of 14 international membe …
Infant outcome after complete uterine rupture.
Al-Zirqi I, Daltveit AK, Vangen S. Al-Zirqi I, et al. Am J Obstet Gynecol. 2018 Jul;219(1):109.e1-109.e8. doi: 10.1016/j.ajog.2018.04.010. Epub 2018 Apr 12. Am J Obstet Gynecol. 2018. PMID: 29655964
The main outcome measure was infant outcome: healthy infant, intrapartum/infant deaths, hypoxic ischemic encephalopathy, and admission to the neonatal intensive care unit. RESULTS: We identified 109 (44.7%) healthy infants, 56 (23.0%) infants needing neonatal intensive car …
The main outcome measure was infant outcome: healthy infant, intrapartum/infant deaths, hypoxic ischemic encephalopathy, and admissio …
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H. MacKay CI, et al. Clin Genet. 2021 Jan;99(1):157-165. doi: 10.1111/cge.13862. Epub 2020 Oct 20. Clin Genet. 2021. PMID: 33047306
There are observed differences in phenotype severity and developmental outcomes for individuals with different CDKL5 variants. However, the historic variant groupings did not seem to reflect differences in phenotype severity or developmental outcomes as clearly as a …
There are observed differences in phenotype severity and developmental outcomes for individuals with different CDKL5 variants. Howeve …
Hypnagogic Frontal EEG Bursts in Children: Epileptic or Not?
Datta AN. Datta AN. J Clin Neurophysiol. 2021 Nov 1;38(6):536-541. doi: 10.1097/WNP.0000000000000722. J Clin Neurophysiol. 2021. PMID: 32496344

The GSW group had more seizures and epilepsy than the other groups (P < 0.001), but the HFSC group also had more seizures (P < 0.001) and epilepsy (P < 0.003) than the normal EEG group. ...Our results suggest that HFSC may be a marker of increased risk of s

…

The GSW group had more seizures and epilepsy than the other groups (P < 0.001), but the HFSC group also had more seizures (P <

…
Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey.
Axeen E, Bell E, Robichaux Viehoever A, Schreiber JM, Sidiropoulos C, Goodkin HP. Axeen E, et al. Pediatr Neurol. 2021 Aug;121:28-32. doi: 10.1016/j.pediatrneurol.2021.05.005. Epub 2021 May 12. Pediatr Neurol. 2021. PMID: 34139551
All caregivers reported developmental delays with a spectrum of severity. Movement disorders (76%) were more common than epilepsy (52%), although 33% reported both. ...No single most effective medication for movement disorders or epilepsy was noted. Ten parti …
All caregivers reported developmental delays with a spectrum of severity. Movement disorders (76%) were more common than epilepsy …
Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.
Kim SH, Seo J, Kwon SS, Teng LY, Won D, Shin S, Lee JS, Lee ST, Choi JR, Kang HC. Kim SH, et al. Epilepsia. 2024 Mar;65(3):766-778. doi: 10.1111/epi.17857. Epub 2023 Dec 22. Epilepsia. 2024. PMID: 38073125
OBJECTIVE: We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes and subgroups. METHODS: Patients with unexplained pediatric-onset epilepsy were identified from the in-house Severance …
OBJECTIVE: We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy …
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi M, Bashiri FA, Abdelhakim M, Adly N, Jamjoom DZ, Sumaily KM, Alghanem B, Arold ST. Alghamdi M, et al. Clin Genet. 2021 Jan;99(1):99-110. doi: 10.1111/cge.13843. Epub 2020 Sep 16. Clin Genet. 2021. PMID: 32888189 Free PMC article. Review.
Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5'-phosphate (PLP)-vitamin-responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. ...In …
Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5'-phosphate (PLP)-vitamin-responsive epileptic …
Developmental profile at initial presentation in children with infantile spasms.
Sumanasena SP, Wanigasinghe J, Arambepola C, Sri Ranganathan S, Muhandiram E. Sumanasena SP, et al. Dev Med Child Neurol. 2019 Nov;61(11):1295-1301. doi: 10.1111/dmcn.14205. Epub 2019 Mar 10. Dev Med Child Neurol. 2019. PMID: 30854631 Free article.
AIM: To describe the baseline developmental profile and influence of clinical and demographic factors on the developmental skills of infants diagnosed with infantile spasms. ...All infants underwent Bayley Scales of Infant and Toddler Development assessments in the …
AIM: To describe the baseline developmental profile and influence of clinical and demographic factors on the developmental ski …
High Incidence of Hippocampal Abnormalities in Pediatric Patients with Congenital Cytomegalovirus Infection.
Natsume T, Inaba Y, Osawa Y, Fukuyama T. Natsume T, et al. Neuropediatrics. 2022 Aug;53(4):239-245. doi: 10.1055/a-1754-1142. Epub 2022 Jan 28. Neuropediatrics. 2022. PMID: 35098496 Free PMC article.
No correlations were detected between HIMAL and intelligence quotient/developmental quotient or the occurrences of autism spectrum disorder or epilepsy. ...Further study is necessary to clarify the associations of HIMAL with other clinical and developmental f …
No correlations were detected between HIMAL and intelligence quotient/developmental quotient or the occurrences of autism spectrum di …
45 results