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Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.
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- Romanian Journal of Morphology & Embryology, 2022, v. 63, n. 1, p. 181, doi. 10.47162/RJME.63.1.19
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- Article
Role of optic microscopy for early diagnosis of Menkes disease.
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- Romanian Journal of Morphology & Embryology, 2014, v. 55, n. 3, p. 953
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- Article
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
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- EMBO Molecular Medicine, 2017, v. 9, n. 12, p. 1764, doi. 10.15252/emmm.201708525
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- Article
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
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- EMBO Molecular Medicine, 2015, v. 7, n. 12, p. 1580, doi. 10.15252/emmm.201505323
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- Article
Pregabalin as Adjunctive Treatment for Focal Onset Seizures in Pediatric Patients: A Randomized Controlled Trial.
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- Journal of Child Neurology, 2019, v. 34, n. 5, p. 248, doi. 10.1177/0883073818821035
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- Article
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
- Published in:
- 2015
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- Publication type:
- journal article
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. e1136, doi. 10.1210/clinem/dgab750
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- Article
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.
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- Epilepsia (Series 4), 2015, v. 56, n. 8, p. 1185, doi. 10.1111/epi.13057
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- Article
Epilepsy in Rett syndrome-Lessons from the Rett networked database.
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- Epilepsia (Series 4), 2015, v. 56, n. 4, p. 569, doi. 10.1111/epi.12941
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- Article
Co-occurring malformations of cortical development and SCN1A gene mutations.
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- Epilepsia (Series 4), 2014, v. 55, n. 7, p. 1009, doi. 10.1111/epi.12658
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- Article
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
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- Nature Genetics, 2015, v. 47, n. 4, p. 393, doi. 10.1038/ng.3239
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- Article
Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on "De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10 , 889".
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 811, doi. 10.3390/brainsci11060811
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- Article
Fatal Status Epilepticus in Dravet Syndrome.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 889, doi. 10.3390/brainsci10110889
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- Publication type:
- Article
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.
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- Epilepsia Open, 2021, v. 6, n. 1, p. 160, doi. 10.1002/epi4.12459
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- Article
IS THERE AN ENCEPHALOGRAPHIC TRAIT TO SEPTO-OPTIC DYSPLASIA? (DE MORSIER SYNDROME).
- Published in:
- 2014
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- Case Study
ELEMENTE ESENȚIALE ÎN INVESTIGAREA TULBURĂRII GLOBALE DE DEZVOLTARE ŞI A DIZABILITĂȚII INTELECTUALE LA COPIL.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2014, v. 63, n. 4, p. 437, doi. 10.37897/rjp.2014.4.16
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- Publication type:
- Article
KEYPOINTS IN INVESTIGATING THE CHILD WITH GLOBAL DEVELOPMENTAL DELAY AND INTELLECTUAL DISABILITY.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2014, v. 63, n. 4, p. 369, doi. 10.37897/rjp.2014.4.3
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- Publication type:
- Article
EPILEPTIC SEIZURE TRIGGERS IN CHILDREN FROM ROMANIA.
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- Romanian Journal of Neurology, 2016, v. 15, n. 2, p. 80, doi. 10.37897/rjn.2016.2.5
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- Article
ASPECTS OF EPILEPTIC SEIZURES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1.
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- Romanian Journal of Neurology, 2013, v. 12, n. 2, p. 63, doi. 10.37897/rjn.2013.2.3
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- Article
HIPPOCAMPAL SCLEROSIS - CAUSE OR CONSEQUENCE OF MESIAL TEMPORAL LOBE EPILEPSY IN CHILDREN?
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- Romanian Journal of Neurology, 2012, v. 11, n. 1, p. 5, doi. 10.37897/rjn.2012.1.1
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- Publication type:
- Article
FUNCTIONAL MAGNETIC RESONANCE IMAGING CONTRIBUTION TO LANGUAGE AREAS ASSESMENT IN CHILDREN WITH NON-LESION FOCAL EPILEPSY.
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- Romanian Journal of Neurology, 2010, v. 9, n. 3, p. 130, doi. 10.37897/rjn.2010.3.4
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- Publication type:
- Article
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
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- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2474, doi. 10.1111/epi.16699
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- Publication type:
- Article
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
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- Epilepsia (Series 4), 2020, v. 61, n. 3, p. 387, doi. 10.1111/epi.16438
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- Publication type:
- Article
Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the ILAE - Commission on European Affairs and the European Epilepsy Monitoring Unit Association.
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- Epilepsia (Series 4), 2016, v. 57, n. 9, p. 1363, doi. 10.1111/epi.13472
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- Publication type:
- Article
Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe.
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- Epilepsia (Series 4), 2016, v. 57, n. 5, p. 770, doi. 10.1111/epi.13347
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- Publication type:
- Article
Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.
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- Experimental & Therapeutic Medicine, 2022, v. 23, n. 1, p. N.PAG
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- Publication type:
- Article
Corticosteroids versus clobazam in epileptic encephalopathy with ESES: a European multicentre randomised controlled clinical trial (RESCUE ESES*).
- Published in:
- 2020
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- Publication type:
- journal article
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2218, doi. 10.1093/hmg/ddu740
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- Publication type:
- Article
KETOGENIC DIET TREATMENT FOR STATUS EPILEPTICUS.
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- Farmacia, 2019, v. 67, n. 2, p. 218, doi. 10.31925/farmacia.2019.2.4
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- Publication type:
- Article
VALPROIC ACID, POLYCYSTIC OVARY SYNDROME AND THE ADOLESCENT WITH EPILEPSY.
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- Farmacia, 2017, v. 65, n. 1, p. 1
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- Publication type:
- Article
Antenatal Cerebral Hemorrhages: Evolution and Outcome.
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- Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2014, v. 8, n. 2, p. 208, doi. 10.5005/jp-journals-10009-1356
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- Article
Ketogenic Diet in Patients with GLUT1 Deficiency Syndrome.
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- Maedica - a Journal of Clinical Medicine, 2019, v. 14, n. 2, p. 93, doi. 10.26574/maedica.2019.14.2.93
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- Article
Intellectual Disability and Epilepsy in Down Syndrome.
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- Maedica - a Journal of Clinical Medicine, 2014, v. 9, n. 4, p. 344
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- Article
Diagnostic Approach of Angelman Syndrome.
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- Maedica - a Journal of Clinical Medicine, 2013, v. 8, n. 4, p. 321
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- Publication type:
- Article
Diagnostic Approach of Epilepsy in Childhood and Adolescence.
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- Maedica - a Journal of Clinical Medicine, 2013, v. 8, n. 2, p. 195
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- Publication type:
- Article
Angelman syndrome patient management: 5 years of clinical experience.
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- International Journal on Disability & Human Development (De Gruyter), 2013, v. 12, n. 3, p. 379, doi. 10.1515/ijdhd-2012-0107
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- Publication type:
- Article