Works by Santucci, Margherita
Results: 24
Breathing instability in Joubert syndrome.
- Published in:
- Movement Disorders, 2012, v. 27, n. 1, p. 64, doi. 10.1002/mds.23999
- By:
- Publication type:
- Article
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2311
- By:
- Publication type:
- Article
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
- Published in:
- Disability & Rehabilitation, 2022, v. 44, n. 18, p. 4966, doi. 10.1080/09638288.2021.1922516
- By:
- Publication type:
- Article
Telogen Effluvium Caused by Magnesium Valproate and Lamotrigine.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Sleep-related hypermotor seizures in aspartylglucosaminuria: A case report.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 6, p. 1638, doi. 10.1111/j.1528-1167.2008.01991.x
- By:
- Publication type:
- Article
Prognostic factors in patients with mesial temporal lobe epilepsy.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, p. 41, doi. 10.1111/j.1528-1167.2008.01969.x
- By:
- Publication type:
- Article
Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1629, doi. 10.1111/j.1528-1167.2006.00641.x
- By:
- Publication type:
- Article
Early-onset Absence Epilepsy and Paroxysmal Dyskinesia.
- Published in:
- Epilepsia (Series 4), 2002, v. 43, n. 10, p. 1224, doi. 10.1046/j.1528-1157.2002.13802.x
- By:
- Publication type:
- Article
Ictal and Nonictal Paroxysmal Events in Infantile Neuroaxonal Dystrophy: Polygraphic Study of a Case.
- Published in:
- Epilepsia (Series 4), 2001, v. 42, n. 8, p. 1074, doi. 10.1046/j.1528-1157.2001.0420081074.x
- By:
- Publication type:
- Article
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 4, p. 496, doi. 10.4103/JPN.JPN_169_17
- By:
- Publication type:
- Article
Neuropsychological implications of adjunctive levetiracetam in childhood epilepsy.
- Published in:
- Journal of Pediatric Neurosciences, 2014, v. 9, n. 2, p. 115, doi. 10.4103/1817-1745.139282
- By:
- Publication type:
- Article
Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review.
- Published in:
- Journal of Pediatric Neurosciences, 2014, v. 9, n. 1, p. 36, doi. 10.4103/1817-1745.131481
- By:
- Publication type:
- Article
Cortical reflex myoclonus in rett syndrome.
- Published in:
- Annals of Neurology, 1998, v. 43, n. 4, p. 472, doi. 10.1002/ana.410430410
- By:
- Publication type:
- Article
Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01316
- By:
- Publication type:
- Article
Autism and Coeliac Disease.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches.
- Published in:
- Journal of Headache & Pain, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s10194-018-0939-y
- By:
- Publication type:
- Article
Cannabidiol in Pharmacoresistant Epilepsy: Clinical Pharmacokinetic Data From an Expanded Access Program.
- Published in:
- Frontiers in Pharmacology, 2021, p. N.PAG, doi. 10.3389/fphar.2021.637801
- By:
- Publication type:
- Article
Methyl-CpG-binding Protein 2 (MECP2) Gene Mutations in an Italian Sample of Patients With Pervasive Developmental Disorder and Mental Retardation.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 6, p. 772, doi. 10.1177/0883073808327834
- By:
- Publication type:
- Article
Epilepsy in Patients With Pervasive Developmental Disorder Not Otherwise Specified.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 10, p. 1198, doi. 10.1177/0883073807306265
- By:
- Publication type:
- Article
Seizure Worsening Caused by Decreased Serum Valproate During Meropenem Therapy.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 5, p. 456, doi. 10.1177/08830738050200051401
- By:
- Publication type:
- Article
Posterior Fossa Malformations and Epilepsy.
- Published in:
- Journal of Child Neurology, 1999, v. 14, n. 2, p. 113, doi. 10.1177/088307389901400209
- By:
- Publication type:
- Article
Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 7, p. e103, doi. 10.1111/epi.14446
- By:
- Publication type:
- Article
Extrastriate visual cortex in idiopathic occipital epilepsies: The contribution of retinotopic areas to spike generation.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 6, p. 896, doi. 10.1111/epi.13385
- By:
- Publication type:
- Article