Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.
J Biol Chem
; 297(6): 101355, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34717959
3.
Age-related changes in the inflammatory responses to viral infections in the central nervous system during childhood.
Pediatr Res
; 91(1): 204-208, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674737
4.
Clinical guidance for diagnosis and management of suspected Pediatric Acute-onset Neuropsychiatric Syndrome in the Nordic countries.
Acta Paediatr
; 110(12): 3153-3160, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33848371
5.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain
; 140(10): 2610-2622, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969385
6.
Authors' reply regarding "On diagnosing and treating PANS/PANDAS: Questions from a patient support group".
Acta Paediatr
; 110(12): 3390-3391, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34644418
7.
Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives.
Stem Cells Transl Med
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38588471
8.
Neurocognitive outcome in children and adolescents following infectious encephalitis.
Child Neuropsychol
; : 1-18, 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37970642
9.
The Swedish COG6-CDG experience and a comprehensive literature review.
JIMD Rep
; 64(1): 79-89, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636598
10.
The developing immune system - from foetus to toddler.
Acta Paediatr
; 101(2): 120-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22003882
11.
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome.
Clin Case Rep
; 10(6): e5989, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35765291
12.
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.
Front Pediatr
; 10: 940103, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35967578
13.
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.
Biomedicines
; 10(12)2022 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36551928
14.
A ten-year retrospective case series of glucocorticoid treatment of bacterial meningitis in children.
Acta Paediatr
; 105(8): 979-82, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102576
15.
Altered cytokine levels in cerebrospinal fluid following ketogenic diet of children with refractory epilepsy.
Epilepsy Res
; 177: 106775, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597959
16.
Post-encephalitic epilepsy in childhood: results from a prospective cohort study.
Epileptic Disord
; 23(1): 133-142, 2021 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33648928
17.
The Kynurenine Pathway is Differentially Activated in Children with Lyme Disease and Tick-Borne Encephalitis.
Microorganisms
; 9(2)2021 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33557172
18.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
19.
The Cerebrospinal Fluid Interleukin-6/Interleukin-10 Ratio Differentiates Pediatric Tick-borne Infections.
Pediatr Infect Dis J
; 39(3): 239-243, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032308
20.
Prospective Evaluation of Childhood Encephalitis: Predisposing Factors, Prevention and Outcome.
Pediatr Infect Dis J
; 39(12): e417-e422, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33165276