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1.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet;
142(7): 909-925, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37183190
2.
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Epilepsia;
64(5): 1331-1347, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36636894
3.
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Eur J Pediatr;
181(8): 2919-2926, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35575813
4.
Rehabilitation in children and adolescents undergoing stem cell transplantation: A pilot study focused on motor performance.
Eur J Cancer Care (Engl);
31(6): e13711, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-36168857
5.
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
Mol Genet Metab;
124(3): 210-215, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29895405
6.
Lidocaine treatment in refractory status epilepticus resulting from febrile infection-related epilepsy syndrome: a case report and follow-up.
Neuropediatrics;
46(1): 65-8, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25343330
7.
Clinical and Instrumental Follow-Up of Childhood Absence Epilepsy (CAE): Exploration of Prognostic Factors.
Children (Basel);
9(10)2022 Sep 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-36291387
8.
KETASER01 protocol: What went right and what went wrong.
Epilepsia Open;
7(3): 532-540, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35833327
9.
Where have the children with epilepsy gone? An observational study of seizure-related accesses to emergency department at the time of COVID-19.
Seizure;
83: 38-40, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33080483
10.
Acute disseminated encephalomyelitis in children: focus on relapsing patients.
Pediatr Neurol;
39(1): 12-7, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18555167
11.
Anticonvulsants for Psychiatric Disorders in Children and Adolescents: A Systematic Review of Their Efficacy.
Front Psychiatry;
9: 270, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29988399
12.
Bilateral loss of cortical SEPs predict severe MRI lesions in neonatal hypoxic ischemic encephalopathy treated with hypothermia.
Clin Neurophysiol;
129(1): 95-100, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29172116
13.
Are dyslexia and dyscalculia associated with Rolandic epilepsy? A short report on ten Italian patients.
Epileptic Disord;
9(4): 432-6, 2007 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18077230
14.
Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01).
BMJ Open;
6(6): e011565, 2016 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27311915
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