"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances (Q37969852)

26 August 2017

4 references

14 March 2019

25 April 2019

23 July 2020

24 January 2021

"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances (English)

1 reference

genetic predisposition to disease

26 August 2017

4 references

14 March 2019

25 April 2019

23 July 2020

10 September 2020

1 reference

23 July 2020

1 reference

24 January 2021

Pasquale Parisi

1 reference

26 August 2017

Alberto Verrotti

1 reference

26 August 2017

Maria Chiara Paolino

1 reference

26 August 2017

Rosa Castaldo

1 reference

26 August 2017

Filomena Ianniello

1 reference

26 August 2017

Alessandro Ferretti

1 reference

26 August 2017

Francesco Chiarelli

1 reference

26 August 2017

Maria Pia Villa

1 reference

26 August 2017

language of work or name

1 reference

19 December 2011

5 references

Italian Journal of Paediatrics

26 August 2017

14 March 2019

25 April 2019

23 July 2020

24 January 2021

6 references

26 August 2017

14 March 2019

25 April 2019

23 July 2020

10 September 2020

24 January 2021

1 reference

26 August 2017

1 reference

Creative Commons Attribution 2.0 Generic

26 August 2017

4 references

14 March 2019

25 April 2019

23 July 2020

on focus list of Wikimedia project

24 January 2021

copyrighted

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ScienceSource

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Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR

6 September 2017

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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

6 September 2017

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Efficacy of levetiracetam in children with epilepsy younger than 2 years of age.

6 September 2017

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An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder

6 September 2017

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6 September 2017

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High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study

6 September 2017

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A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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Role of interictal epileptiform abnormalities in cognitive impairment

6 September 2017

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6 September 2017

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Photosensitivity in idiopathic generalized epilepsies

6 September 2017

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Aggravation of epilepsy by antiepileptic drugs

6 September 2017

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

6 September 2017

1 reference

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Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society

6 September 2017

1 reference

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Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

6 September 2017

1 reference

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Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

6 September 2017

1 reference

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Epileptic encephalopathy of late childhood: Landau-Kleffner syndrome and the syndrome of continuous spikes and waves during slow-wave sleep

6 September 2017

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Lennox-Gastaut syndrome (childhood epileptic encephalopathy).

6 September 2017

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Epileptic encephalopathies in early infancy with suppression-burst

6 September 2017

1 reference

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A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

6 September 2017

1 reference

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Defects in synaptic vesicle docking in unc-18 mutants

6 September 2017

1 reference

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Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins

6 September 2017

1 reference

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A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes

6 September 2017

1 reference

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Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

6 September 2017

1 reference

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Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

6 September 2017

2 references

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6 September 2017

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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

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Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

6 September 2017

1 reference

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Medical treatment of patients with infantile spasms.

6 September 2017

1 reference

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

6 September 2017

1 reference

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Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels

6 September 2017

1 reference

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Zonisamide in West syndrome

6 September 2017

1 reference

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The treatment of West syndrome: a Cochrane review of the literature to December 2000.

6 September 2017

1 reference

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6 September 2017

Epileptic encephalopathy

1 reference

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A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

6 September 2017

1 reference

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Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

6 September 2017

1 reference

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First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

6 September 2017

1 reference

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Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group

6 September 2017

1 reference

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Catastrophic epilepsy in childhood

6 September 2017

1 reference

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Vigabatrin as a first-choice drug in the treatment of West syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Atypical evolutions of benign localization-related epilepsies in children: are they predictable?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

6 September 2017

1 reference

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GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

6 September 2017

1 reference

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Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Paradoxical precipitation of tonic seizures by lorazepam in a child with atypical absence seizures

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Ketogenic diet for the treatment of catastrophic epileptic encephalopathies in childhood.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Treatment of Lennox-Gastaut syndrome: overview and recent findings

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Excessive 7-14-sec positive spikes during REM sleep in monozygotic non-epileptic twins with speech retardation (author's transl)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Use of lamotrigine in Lennox-Gastaut and related epilepsy syndromes.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Childhood epileptic encephalopathy with slow spike-wave. A statistical study of 80 cases

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Benign nocturnal childhood occipital epilepsy: a new syndrome with nocturnal seizures, tonic deviation of the eyes, and vomiting

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Benign childhood epilepsy with centrotemporal spikes and the multicomponent model of attention: a matched control study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Early infantile epileptic encephalopathy with unusual favourable outcome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Levetiracetam monotherapy for childhood occipital epilepsy of gastaut

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Landau-Kleffner syndrome and CSWS syndrome: treatment with intravenous immunoglobulins

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors

1 September 2018

1 reference

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The SCN1A variant database: a novel research and diagnostic tool.

1 September 2018

1 reference

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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Efficacy and safety of levetiracetam in the treatment of Panayiotopoulos syndrome.

1 September 2018

1 reference

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A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus

1 September 2018

1 reference

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Levetiracetam monotherapy in newly diagnosed cryptogenic West syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Hemispherectomy in early infantile epileptic encephalopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

The spectrum of SCN1A-related infantile epileptic encephalopathies

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Coexistence of idiopathic rolandic epilepsy and CSWS in two families

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Efficacy of very high dose steroid treatment in a case of Landau-Kleffner syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Dravet syndrome: a study of 53 patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Multiple independent spike foci and epilepsy, with special reference to a new epileptic syndrome of "severe epilepsy with multiple independent spike foci".

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Early-onset absence epilepsy: clinical and electroencephalographic features in three children

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Ictal video-polysomnography and EEG spectral analysis in a child with severe Panayiotopoulos syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Benign epilepsy of childhood with centrotemporal spikes and unilateral developmental opercular dysplasia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Atypical benign partial epilepsy of childhood.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267655

Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria

1 September 2018

1 reference

https://api.crossref.org/works/10.1186%2F1824-7288-37-58

Is benign rolandic epilepsy genetically determined?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1824-7288-37-58

Genetic influence on rolandic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1824-7288-37-58

Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1824-7288-37-58

A new type of epilepsy: benign partial epilepsy of childhood with occipital spike-waves

21 January 2018

1 reference

12 December 2020

Impact of early hemispherotomy in a case of Ohtahara syndrome with left parieto-occipital megalencephaly

1 reference

12 December 2020

Zonisamide treatment of early infantile epileptic encephalopathy

1 reference

12 December 2020

Effect of the ketogenic diet for West syndrome into which early infantile epileptic encephalopathy with suppression-burst was evolved

1 reference

12 December 2020

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study

1 reference

12 December 2020

A novel SCN2A mutation in family with benign familial infantile seizures

1 reference

12 December 2020

Cognitive and linguistic abnormalities in benign childhood epilepsy with centrotemporal spikes

1 reference

12 December 2020

Seizure characteristics in chromosome 20 benign familial neonatal convulsions

1 reference

12 December 2020

Refractory, life-threatening status epilepticus in a 3-year-old girl

1 reference

12 December 2020

Polyalanine expansion of ARX associated with cryptogenic West syndrome

1 reference

12 December 2020

Ictal cardiorespiratory arrest in Panayiotopoulos syndrome

1 reference

12 December 2020

A magnetoencephalographic study of patients with Panayiotopoulos syndrome

1 reference

12 December 2020

Effect of Early Corticosteroid Therapy for Landau-Kleffner Syndrome

1 reference

12 December 2020

Recurrent autonomic status epilepticus in Panayiotopoulos syndrome: video/EEG studies

1 reference

12 December 2020

Late-onset childhood occipital epilepsy (Gastaut type): a family study

1 reference

12 December 2020

Long term outcome in children affected by absence epilepsy with onset before the age of three years

1 reference

12 December 2020

Panayiotopoulos syndrome: probable genetic origin, but not in SCN1A

1 reference

12 December 2020

Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients

1 reference

12 December 2020

[Liposteroid therapy in a case of early infantile epileptic encephalopathy with suppression burst]

1 reference

12 December 2020

Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy

1 reference

12 December 2020

Identifiers

DOI

10.1186/1824-7288-37-58

1 reference

26 August 2017

1 reference

26 August 2017

PubMed publication ID

22182677

1 reference