Works by Licchetta, Laura
Results: 43
If seizures left speechless: CA-P-S C-A-R-E, a proposal of a new ictal language evaluation protocol.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 8, p. 3249, doi. 10.1007/s10072-020-04872-x
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- Article
Epilepsy in coeliac disease: not just a matter of calcifications.
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- Neurological Sciences, 2011, v. 32, n. 6, p. 1069, doi. 10.1007/s10072-011-0629-x
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- Article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
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- Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
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- Article
Ictal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy: A Study of 200 Patients.
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- Journal of Clinical Medicine, 2024, v. 13, n. 6, p. 1767, doi. 10.3390/jcm13061767
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- Article
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
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- Biomedicines, 2022, v. 10, n. 1, p. 12, doi. 10.3390/biomedicines10010012
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- Article
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2311
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- Article
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
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- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16275
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- Article
FDG-PET assessment and metabolic patterns in Lafora disease.
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- European Journal of Nuclear Medicine & Molecular Imaging, 2020, v. 47, n. 6, p. 1576, doi. 10.1007/s00259-019-04647-3
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- Article
Increased frequency of arousal parasomnias in families with nocturnal frontal lobe epilepsy: A common mechanism?
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- Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1852, doi. 10.1111/j.1528-1167.2010.02581.x
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- Article
Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug-refractory epilepsy.
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- Epilepsia (Series 4), 2010, v. 51, n. 5, p. 797, doi. 10.1111/j.1528-1167.2010.02520.x
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- Article
Clinical Features and Pathophysiology of Disorders of Arousal in Adults: A Window Into the Sleeping Brain.
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- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00526
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- Article
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02880-6
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- Publication type:
- Article
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02880-6
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- Article
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
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- 2016
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- Publication type:
- journal article
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 5, p. 782, doi. 10.1002/ana.24126
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- Article
Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 477, doi. 10.1111/cge.13823
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- Article
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
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- 2022
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- journal article
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency.
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- Epilepsia Open, 2022, v. 7, n. 4, p. 810, doi. 10.1002/epi4.12630
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- Article
Treatment with metformin in twelve patients with Lafora disease.
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- 2019
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- Publication type:
- Letter
Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.
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- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03671-7
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- Article
The Impact of the COVID-19 Pandemic on People With Epilepsy. An Italian Survey and a Global Perspective.
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.613719
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- Article
Encephalopathy in COVID-19 Presenting With Acute Aphasia Mimicking Stroke.
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.587226
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- Article
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
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- Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
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- Article
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
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- Nature Genetics, 2012, v. 44, n. 11, p. 1188, doi. 10.1038/ng.2440
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- Article
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
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- Journal of Neurology, 2024, v. 271, n. 2, p. 835, doi. 10.1007/s00415-023-12017-1
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- Article
Personality disorders in people with epilepsy: a review.
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- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2024.1404856
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- Article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
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- Article
Epilepsy With Auditory Features: From Etiology to Treatment.
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- Frontiers in Neurology, 2022, v. 12, p. 1, doi. 10.3389/fneur.2021.807939
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- Publication type:
- Article
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.
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- 2021
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- Publication type:
- journal article
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
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- Molecular Diagnosis & Therapy, 2020, v. 24, n. 5, p. 571, doi. 10.1007/s40291-020-00488-1
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- Article
Sleep related hyper motor epilepsy (SHE): a unique syndrome with heterogeneous genetic etiologies.
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- Sleep Science & Practice, 2019, v. 3, n. 1, p. 1, doi. 10.1186/s41606-019-0035-5
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- Article
Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 704, doi. 10.1002/acn3.51259
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- Article
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 475, doi. 10.1002/acn3.722
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- Article
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.
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- Molecular Syndromology, 2024, v. 15, n. 2, p. 114, doi. 10.1159/000535144
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- Article
Clinical and molecular characterization of patients with YWHAG‐related epilepsy.
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- Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1439, doi. 10.1111/epi.17939
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- Article
Current treatment options for familial adult myoclonus epilepsy.
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- Epilepsia (Series 4), 2023, v. 64, p. S58, doi. 10.1111/epi.17590
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- Article
Risk of hospitalization and death for COVID‐19 in persons with epilepsy over a 20‐month period: The EpiLink Bologna cohort, Italy.
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- Epilepsia (Series 4), 2022, v. 63, n. 9, p. 2279, doi. 10.1111/epi.17356
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- Article
Seizures with paroxysmal arousals in sleep‐related hypermotor epilepsy (SHE): Dissecting epilepsy from NREM parasomnias.
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- Epilepsia (Series 4), 2020, v. 61, n. 10, p. 2194, doi. 10.1111/epi.16659
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- Article
Sleep‐related hypermotor epilepsy: A prediction cohort study on sleep/awake patterns of seizures.
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- Epilepsia (Series 4), 2019, v. 60, n. 11, p. e115, doi. 10.1111/epi.16369
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- Article
Epilepsy with auditory features: Long‐term outcome and predictors of terminal remission.
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- Epilepsia (Series 4), 2018, v. 59, n. 4, p. 834, doi. 10.1111/epi.14033
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- Article
DEPDC5 mutations in epilepsy with auditory features.
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- Epilepsia (Series 4), 2016, v. 57, n. 2, p. 335, doi. 10.1111/epi.13233
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- Article
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31.
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- Epilepsia (Series 4), 2014, v. 55, n. 6, p. 841, doi. 10.1111/epi.12560
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- Article
A novel pedigree with familial cortical myoclonic tremor and epilepsy ( FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
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- Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1298, doi. 10.1111/epi.12216
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- Article