Detalles de la búsqueda
1.
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
J Hum Genet
; 2024 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38467738
2.
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper.
Epilepsia
; 65(3): 533-541, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38279786
3.
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Epilepsia
; 64(10): 2550-2570, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37655702
4.
What is a clinical practice guideline? A roadmap to their development. Special report from the Guidelines Task Force of the International League Against Epilepsy.
Epilepsia
; 63(8): 1920-1929, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35722680
5.
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1349-1397, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503712
6.
Timing of referral to evaluate for epilepsy surgery: Expert Consensus Recommendations from the Surgical Therapies Commission of the International League Against Epilepsy.
Epilepsia
; 63(10): 2491-2506, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35842919
7.
Counseling about sudden unexpected death in epilepsy (SUDEP): A global survey of neurologists' opinions.
Epilepsy Behav
; 128: 108570, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35093831
8.
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Am J Med Genet A
; 185(4): 1081-1090, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33403770
9.
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
Epilepsia
; 62(3): 615-628, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33522601
10.
Knowledge and attitudes toward epilepsy among people in Sfax region, Tunisia.
Epilepsy Behav
; 122: 108151, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34217034
11.
A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
IUBMB Life
; 71(12): 1937-1945, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31317616
12.
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Biochem Biophys Res Commun
; 499(3): 563-569, 2018 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29596833
13.
What is the interest of the electroencephalogram in the syndromic diagnosis?
Tunis Med
; 96(8-9): 528-531, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30430534
14.
Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.
Int J Dev Neurosci
; 84(1): 35-46, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37848385
15.
Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort.
Pediatr Neurol
; 150: 3-9, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37925769
16.
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
Ann Hum Genet
; 77(4): 336-43, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23550889
17.
[Study of a Tunisian population of children with learning disorders]. / Etude d'une population tunisienne d'enfants en difficultés scolaires.
Tunis Med
; 91(6): 382-6, 2013 Jun.
Artículo
en Francés
| MEDLINE | ID: mdl-23868035
18.
Mutation in the ß-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.
Int J Dev Neurosci
; 83(6): 532-545, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37529938
19.
Juvenile Dermatomyositis Without Skin Lesions in an Antinuclear Matrix Protein 2 Antibody Seropositive Pediatric Case.
J Clin Neuromuscul Dis
; 25(1): 46-50, 2023 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37611270
20.
Access to Pediatric Neurology Training and Services Worldwide: A Survey by the International Child Neurology Association.
Neurology
; 101(18): 798-808, 2023 10 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-37491325