Search details
1.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Genet Med
; 25(9): 100894, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37183800
2.
Outpatient vagus nerve stimulation surgery in patients with drug-resistant epilepsy with severe intellectual disability.
Epilepsy Behav
; 118: 107931, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33770612
3.
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Brain
; 138(Pt 10): 2859-74, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26297560
4.
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
J Neurol Neurosurg Psychiatry
; 86(6): 646-54, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25118206
5.
Benefits of vagus nerve stimulation on psychomotor functions in patients with severe drug-resistant epilepsy.
Epilepsy Res
; 198: 107260, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38007914
6.
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
PLoS Genet
; 5(2): e1000381, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-19214208
7.
A review of the natural history of Sturge-Weber syndrome through adulthood.
J Neurol
; 269(9): 4872-4883, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35508811
8.
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Hum Mutat
; 32(1): E1959-75, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21053371
9.
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia
; 52(10): 1820-7, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21762454
10.
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
J Med Genet
; 47(6): 404-10, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20522430
11.
SCN1A-related epilepsy with recessive inheritance: Two further families.
Eur J Paediatr Neurol
; 33: 121-124, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-34174751
12.
Familial form of typical childhood absence epilepsy in a consanguineous context.
Epilepsia
; 51(9): 1889-93, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-20561025
13.
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Hum Mutat
; 30(3): 397-405, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19191339
14.
Two novel epilepsy-linked mutations leading to a loss of function of LGI1.
Arch Neurol
; 64(2): 217-22, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-17296837
15.
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients.
Arch Neurol
; 64(6): 813-9, 2007 Jun.
Article
in English
| MEDLINE | ID: mdl-17562929
16.
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.
Epilepsy Res
; 76(1): 41-8, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17681454
17.
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Hum Mutat
; 27(4): 389, 2006 Apr.
Article
in English
| MEDLINE | ID: mdl-16541393
18.
Basilar artery diameter and 5-year mortality in patients with stroke.
Stroke
; 37(9): 2342-7, 2006 Sep.
Article
in English
| MEDLINE | ID: mdl-16888278
19.
N3 sleep with rapid eye movements in a PCDH19 mutation: a new dissociate state between N3 and REM sleep.
Sleep Med
; 74: 341-342, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32949989
20.
Acute behavioral crises in psychiatric inpatients with autism spectrum disorder (ASD): recognition of concomitant medical or non-ASD psychiatric conditions predicts enhanced improvement.
Res Dev Disabil
; 38: 242-55, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25575287