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1.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Proc Natl Acad Sci U S A
; 119(15): e2116887119, 2022 04 12.
Article
in English
| MEDLINE | ID: mdl-35377796
2.
Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features.
Fetal Diagn Ther
; 50(3): 143-157, 2023.
Article
in English
| MEDLINE | ID: mdl-36693325
3.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36214804
4.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35718920
5.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Article
in English
| MEDLINE | ID: mdl-34114611
6.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33410528
7.
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.
BMC Med Genet
; 21(1): 10, 2020 01 08.
Article
in English
| MEDLINE | ID: mdl-31914951
8.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet
; 99(6): 1368-1376, 2016 Dec 01.
Article
in English
| MEDLINE | ID: mdl-27889060
9.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Article
in English
| MEDLINE | ID: mdl-29997391
10.
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
Neuropediatrics
; 50(5): 308-312, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31226716
11.
Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex.
Epilepsy Behav
; 96: 23-27, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31077938
12.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Article
in English
| MEDLINE | ID: mdl-28379373
13.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Am J Hum Genet
; 94(4): 547-58, 2014 Apr 03.
Article
in English
| MEDLINE | ID: mdl-24656866
14.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
J Pediatr
; 185: 160-166.e1, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28284480
15.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
J Med Genet
; 53(8): 511-22, 2016 08.
Article
in English
| MEDLINE | ID: mdl-26989088
16.
Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.
Epilepsia
; 57(4): 648-59, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26873267
17.
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Epilepsia
; 56(12): 1931-40, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26514728
18.
Exceptional verbal intelligence after hemispherotomy in a child with Rasmussen encephalitis.
Neurocase
; 21(2): 144-7, 2015.
Article
in English
| MEDLINE | ID: mdl-24471481
19.
The ketogenic diet can be used successfully in combination with corticosteroids for epileptic encephalopathies.
Epilepsy Behav
; 48: 61-5, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26057351
20.
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
Am J Med Genet A
; 164A(8): 2025-8, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24715584