Search details
1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 111(6): 1184-1205, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38744284
2.
Visual field defects after vigabatrin treatment during infancy: retrospective population-based study.
Dev Med Child Neurol
; 64(5): 641-648, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34716587
3.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33710394
4.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 683-694, 2016 09 01.
Article
in English
| MEDLINE | ID: mdl-27545674
5.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30968951
6.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29315614
7.
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.
Hum Mutat
; 37(9): 884-8, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27279129
8.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Am J Hum Genet
; 93(5): 967-75, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24207121
9.
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Am J Hum Genet
; 90(3): 540-9, 2012 Mar 09.
Article
in English
| MEDLINE | ID: mdl-22387016
10.
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
Brain
; 137(Pt 4): 1019-29, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24566671
11.
Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.
Epilepsia Open
; 2024 May 24.
Article
in English
| MEDLINE | ID: mdl-38785332
12.
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1219262, 2023.
Article
in English
| MEDLINE | ID: mdl-37502687
13.
Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1270299, 2023.
Article
in English
| MEDLINE | ID: mdl-37638311
14.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
EBioMedicine
; 98: 104855, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38251463
15.
High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.
BMC Med Genet
; 13: 84, 2012 Sep 17.
Article
in English
| MEDLINE | ID: mdl-22984989
16.
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
Am J Med Genet A
; 158A(12): 3119-25, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23165795
17.
Networks of cortical activity in infants with epilepsy.
Brain Commun
; 4(6): fcac295, 2022.
Article
in English
| MEDLINE | ID: mdl-36447560
18.
Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.
Am J Med Genet A
; 155A(6): 1322-8, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21523908
19.
Phenotypic and Imaging Spectrum Associated With WDR45.
Pediatr Neurol
; 109: 56-62, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32387008
20.
Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.
BMC Med Genet
; 15: 124, 2014 Nov 18.
Article
in English
| MEDLINE | ID: mdl-25928284