Detalhe da pesquisa
1.
Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population-based study.
Epilepsia
; 63(8): 2096-2107, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652437
2.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299146
3.
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Epilepsia
; 61(11): 2486-2499, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32964447
4.
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae.
Dev Med Child Neurol
; 60(12): 1251-1255, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29956301
5.
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Anal Chem
; 89(17): 8892-8900, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28782931
6.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics
; 48(3): 166-184, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561207
7.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686260
8.
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain
; 137(Pt 5): 1350-60, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24645144
9.
SLC25A22 is a novel gene for migrating partial seizures in infancy.
Ann Neurol
; 74(6): 873-82, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24596948
10.
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
J Med Genet
; 50(8): 521-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636107
11.
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
Mol Genet Metab
; 110(3): 342-4, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23890587
12.
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Mol Genet Genomic Med
; 11(7): e2167, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967109
13.
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Epilepsia
; 53(8): e146-50, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22690784
14.
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
15.
[Epilepsy surgery seems underutilized in Sweden]. / Epilepsikirurgin är underutnyttjad fler bör hänvisas till utredning.
Lakartidningen
; 1192022 08 09.
Artigo
em Sueco
| MEDLINE | ID: mdl-36082924
16.
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
17.
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.
Neurol Genet
; 6(4): e478, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754646
18.
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
JIMD Rep
; 50(1): 1-8, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31741821
19.
[Classification of seizures and epilepsies]. / Nya reviderade klassifikationer av epilepsianfall och sjukdomstyp - Den internationella epilepsiorganisationen har även lanserat en ny klinisk definition av epilepsi.
Lakartidningen
; 1152018 05 21.
Artigo
em Sueco
| MEDLINE | ID: mdl-29786805
20.
[Diagnosing epileptic seizures and epilepsy]. / Utredning av epileptiska anfall och misstänkt epilepsi - Anamnes och vittnesbeskrivning är avgörande för rätt diagnos.
Lakartidningen
; 1152018 05 21.
Artigo
em Sueco
| MEDLINE | ID: mdl-29786809