| Nome |
# |
|
Lennox-Gastaut Syndrome: A State of the Art Review., file e3835320-837c-15e8-e053-a505fe0a3de9
|
1.300
|
|
PRICKLE1-related early onset epileptic encephalopathy, file e3835320-f82f-15e8-e053-a505fe0a3de9
|
256
|
|
The impact of next generation sequencing in the diagnostic work-up of pediatric epilepsies: a single centre observational cohort study, file e383531f-b667-15e8-e053-a505fe0a3de9
|
178
|
|
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO), file e3835318-3348-15e8-e053-a505fe0a3de9
|
129
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|
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3, file e3835328-f87b-15e8-e053-a505fe0a3de9
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119
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Early post-cooling brain magnetic resonance for the prediction of neurodevelopmental outcome in newborns with hypoxic-ischemic encephalopathy, file e383532d-125c-15e8-e053-a505fe0a3de9
|
104
|
|
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis, file e3835324-a8e6-15e8-e053-a505fe0a3de9
|
97
|
|
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders, file e3835322-31d0-15e8-e053-a505fe0a3de9
|
91
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|
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency, file e383531b-1662-15e8-e053-a505fe0a3de9
|
85
|
|
New trends in neuronal migration disorders, file e383531a-707b-15e8-e053-a505fe0a3de9
|
68
|
|
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry, file e383532d-10db-15e8-e053-a505fe0a3de9
|
67
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Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism, file 6a7ae134-5c8d-4f57-9b37-3819a1f82b1f
|
55
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Acute ischemic stroke in childhood: a comprehensive review, file e383532d-056f-15e8-e053-a505fe0a3de9
|
49
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Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene, file 3c24c12f-2b9d-414d-9ec7-2142f2460b4a
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48
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KCNQ2 encephalopathy manifesting with Rett-like features
A follow-up into adulthood, file e3835327-dc80-15e8-e053-a505fe0a3de9
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44
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AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients, file e383532d-0f02-15e8-e053-a505fe0a3de9
|
44
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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines, file e383532c-bbcc-15e8-e053-a505fe0a3de9
|
43
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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies, file e383532d-125e-15e8-e053-a505fe0a3de9
|
36
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Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies, file e383532c-c189-15e8-e053-a505fe0a3de9
|
34
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Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review, file 093bf3c4-d5dc-463b-aac4-edcd38f2fad8
|
29
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Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study., file 735e70fc-61fa-4f36-93d1-80e273e098cd
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28
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Loss of Continuity of Care in Pediatric Neurology Services during COVID-19 Lockdown: An Additional Stressor for Parents, file 4ed5e99d-1aad-4ac3-87a8-658094811531
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19
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Actual insights into treatable inborn errors of metabolism causing epilepsy, file e383531a-ffbc-15e8-e053-a505fe0a3de9
|
14
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Natural course of IQSEC2-related encephalopathy. An Italian national structured survey, file 14bc279d-618c-48c4-9e39-599a55795c57
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6
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PRICKLE1-Related Disorders, file e383532f-1820-15e8-e053-a505fe0a3de9
|
6
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The impact of a newly established specialized pediatric epilepsy center in Tanzania: An observational study, file 4e1e8ddd-3a4a-4c1f-becf-94ed338ac00d
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4
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Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants, file 7b49cb62-3c42-403e-9157-169ee71a707b
|
4
|
|
Bilateral perysilvian polymicrogyria in Chiari I malformation, file e3835311-9e3f-15e8-e053-a505fe0a3de9
|
4
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|
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study, file e3835320-ce59-15e8-e053-a505fe0a3de9
|
4
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Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (nf1) and bilateral (opercular and paracentral) polymicrogyria, file e3835328-fe0d-15e8-e053-a505fe0a3de9
|
4
|
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TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis, file e383532c-e911-15e8-e053-a505fe0a3de9
|
4
|
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Management of Neurological Emergencies in Children: An Updated Overview, file e383532d-056d-15e8-e053-a505fe0a3de9
|
4
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The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study, file 19b41d4c-c9d9-45be-896f-55cb27757fd7
|
3
|
|
Clinical profiles of acute arterial ischemic neonatal stroke, file 6d8a24c2-5735-4588-95f7-edf33f242f2e
|
3
|
|
The Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism, file c4c56ae5-32ff-4066-afce-a7fcfa88a4c5
|
3
|
|
The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study, file e3835312-b624-15e8-e053-a505fe0a3de9
|
3
|
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Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency, file e383531e-c7c5-15e8-e053-a505fe0a3de9
|
3
|
|
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study, file e3835323-e006-15e8-e053-a505fe0a3de9
|
3
|
|
Update on the treatment of vitamin B6 dependent epilepsies, file e3835329-3961-15e8-e053-a505fe0a3de9
|
3
|
|
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes., file e383531c-6944-15e8-e053-a505fe0a3de9
|
2
|
|
Photosensitivity as an early marker of epileptic and developmental encephalopathies, file e383531c-c5cf-15e8-e053-a505fe0a3de9
|
2
|
|
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders, file e383531e-1773-15e8-e053-a505fe0a3de9
|
2
|
|
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1, file e383531e-7850-15e8-e053-a505fe0a3de9
|
2
|
|
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type b, file e3835320-ce56-15e8-e053-a505fe0a3de9
|
2
|
|
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management., file e3835328-e746-15e8-e053-a505fe0a3de9
|
2
|
|
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins, file e383532c-dd30-15e8-e053-a505fe0a3de9
|
2
|
|
Ketogenic diet in pediatric epilepsies, file f699a696-af9a-4e04-bcfd-7159d6526c79
|
2
|
|
Paediatric sudden unexpected death in epilepsy: From pathophysiology to prevention, file 6033aaf3-703d-4e61-9580-f432e978ebe9
|
1
|
|
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency, file 6364336f-49ce-40e5-a375-72c00bf36d8e
|
1
|
|
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia. A Multicentric Cross-sectional Study, file 7db724b9-675a-4792-ac2d-19fb66820155
|
1
|
|
Sudden unexpected death in epilepsy: The need for age-specific evidence-based prevention, file 83b892b6-2f08-4460-87a1-e3dd07ac2d4e
|
1
|
|
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome, file 899123fb-64fc-4f53-acf8-75f979e13c0d
|
1
|
|
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142], file e3835319-f540-15e8-e053-a505fe0a3de9
|
1
|
|
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome, file e383531b-7f5a-15e8-e053-a505fe0a3de9
|
1
|
|
Minor head trauma in the pediatric emergency department: decision making nodes, file e383531e-69e5-15e8-e053-a505fe0a3de9
|
1
|
|
Epilepsy in children with type 1 diabetes mellitus: Pathophysiological basis and clinical hallmarks., file e383531e-d842-15e8-e053-a505fe0a3de9
|
1
|
|
Epilepsy in kcnh1-related syndromes, file e3835320-ce51-15e8-e053-a505fe0a3de9
|
1
|
|
Clinical approach to neurodegenerative disorders in childhood: an updated overview., file e3835321-6b81-15e8-e053-a505fe0a3de9
|
1
|
|
Other single-gene disorders, file e3835321-a9ba-15e8-e053-a505fe0a3de9
|
1
|
|
Actual insights into the clinical management of febrile seizures, file e3835322-a95c-15e8-e053-a505fe0a3de9
|
1
|
|
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?, file e3835324-871f-15e8-e053-a505fe0a3de9
|
1
|
|
null, file e3835327-8901-15e8-e053-a505fe0a3de9
|
1
|
|
Towards an evidence-based treatment of pediatric status epilepticus: still a mountain to climb., file e3835328-e744-15e8-e053-a505fe0a3de9
|
1
|
|
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation, file e383532b-6ec1-15e8-e053-a505fe0a3de9
|
1
|
|
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11), file e383532c-d692-15e8-e053-a505fe0a3de9
|
1
|
|
Contemporary onset of atypical chronic inflammatory demyelinating polyradiculoneuropathy and type 1 diabetes in an adolescent, file e383532d-0897-15e8-e053-a505fe0a3de9
|
1
|
|
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy, file e383532e-64cf-15e8-e053-a505fe0a3de9
|
1
|
|
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications, file e383532f-3318-15e8-e053-a505fe0a3de9
|
1
|
| Totale |
3.035 |