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The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. ...In addition, knowledge gaps are identified which require further research in order to direc …
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disabili …
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.
Mastrangelo M. Mastrangelo M. Metab Brain Dis. 2021 Jan;36(1):29-43. doi: 10.1007/s11011-020-00635-x. Epub 2020 Oct 23. Metab Brain Dis. 2021. PMID: 33095372 Review.
Neurotransmitter dysfunctions could also result from the impairment of neuronal receptors, intracellular signaling, vesicle release or other synaptic abnormalities. Epilepsy is the main clinical hallmark in some of these diseases (e.g. disorders of GABA metabolism, …
Neurotransmitter dysfunctions could also result from the impairment of neuronal receptors, intracellular signaling, vesicle release or other …
Infantile spasms: Assessing the diagnostic yield of an institutional guideline and the impact of etiology on long-term treatment response.
Chourasia N, Yuskaitis CJ, Libenson MH, Bergin AM, Liu S, Zhang B, Poduri A, Harini C. Chourasia N, et al. Epilepsia. 2022 May;63(5):1164-1176. doi: 10.1111/epi.17209. Epub 2022 Mar 18. Epilepsia. 2022. PMID: 35211955
All patients had neuroimaging, and 95% of patients in the nonacquired category (103 of 108 patients) had genetic testing. Etiology was identified in 103 of 127 (81%, 95% confidence interval = .73-.86). ...No difference in treatment response was observed between acquired an …
All patients had neuroimaging, and 95% of patients in the nonacquired category (103 of 108 patients) had genetic testing. Etiology wa …
Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child.
Bromley R, Weston J, Adab N, Greenhalgh J, Sanniti A, McKay AJ, Tudur Smith C, Marson AG. Bromley R, et al. Cochrane Database Syst Rev. 2014 Oct 30;2014(10):CD010236. doi: 10.1002/14651858.CD010236.pub2. Cochrane Database Syst Rev. 2014. PMID: 25354543 Free PMC article. Review.
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials were selected for inclusion. Participants were women with epilepsy taking AED treatment; the two control groups were women without e …
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials we …
Time to Treatment in Pediatric Convulsive Refractory Status Epilepticus: The Weekend Effect.
Barcia Aguilar C, Amengual-Gual M, Sánchez Fernández I, Abend NS, Anderson A, Appavu B, Arya R, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Gaínza-Lein M, Glauser T, Goldstein JL, Goodkin HP, Guerriero RM, Huh L, Lai YC, McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf A, Payne ET, Peariso K, Piantino J, Riviello J, Sannagowdara K, Sheehan T, Sands TT, Tasker RC, Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong AA, Williams K, Loddenkemper T; pSERG. Barcia Aguilar C, et al. Pediatr Neurol. 2021 Jul;120:71-79. doi: 10.1016/j.pediatrneurol.2021.03.009. Epub 2021 Mar 26. Pediatr Neurol. 2021. PMID: 34022752
However, this difference was mainly driven by status epilepticus with in-hospital onset: among 108 patients, the time to first non-BZD ASM was longer during weekdays than during weekends/holidays (55.5 [28.8 to 103.5] minutes versus 28 [15.8 to 66.3] minutes, P = 0.003; ad …
However, this difference was mainly driven by status epilepticus with in-hospital onset: among 108 patients, the time to first non-BZ …