Detalhe da pesquisa
1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 111(6): 1206-1221, 2024 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38772379
2.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38288683
3.
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Neurol Genet
; 8(5): e200020, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-36187725
4.
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Nutrients
; 14(17)2022 Aug 31.
Artigo
Inglês
| MEDLINE | ID: mdl-36079864
5.
Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).
Eur J Paediatr Neurol
; 30: 121-127, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33132036