(Q37102227)

18 August 2017

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title

What's new in: "genetics in childhood epilepsy". (English)

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18 August 2017

Lieven Lagae

1

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18 August 2017

5 March 2008

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European Journal of Pediatrics

18 August 2017

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18 August 2017

167

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18 August 2017

7

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18 August 2017

715-722

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https://scigraph.springernature.com/pub.10.1007/s00431-008-0690-5

18 August 2017

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cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-008-0690-5

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-008-0690-5

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-008-0690-5

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

21 January 2018

1 reference

12 December 2020

The spectrum of SCN1A-related infantile epileptic encephalopathies.

1 reference

12 December 2020

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

12 December 2020

Sodium-channel defects in benign familial neonatal-infantile seizures

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12 December 2020

Channelopathies in idiopathic epilepsy

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12 December 2020

[Vaccine encephalopathy: a myth collapses?]

1 reference

12 December 2020

Cortical malformations: a frequent cause of epilepsy in children

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12 December 2020

A novel GABRG2 mutation associated with febrile seizures

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12 December 2020

A de novo LGI1 mutation in sporadic partial epilepsy with auditory features

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12 December 2020

Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.

1 reference

12 December 2020

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

1 reference

12 December 2020

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

1 reference

12 December 2020

The Judith Hoyer Lecture: genes, pixels, patterns, and prevention.

1 reference

12 December 2020

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families

1 reference

12 December 2020

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

1 reference

12 December 2020

Benign familial infantile seizures

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12 December 2020

SCN1A mutations and epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetics of febrile seizures

1 reference

12 December 2020

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

1 reference

12 December 2020

Genetic variation of CACNA1H in idiopathic generalized epilepsy

1 reference

12 December 2020

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

1 reference

12 December 2020

Genes and loci involved in febrile seizures and related epilepsy syndromes

1 reference

12 December 2020

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

1 reference

12 December 2020

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

1 reference

12 December 2020

Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene

1 reference

12 December 2020

Human epilepsies: interaction of genetic and acquired factors

1 reference

12 December 2020

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

1 reference

12 December 2020

Developmental changes in human gamma-aminobutyric acidA receptor subunit composition.

1 reference

12 December 2020

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

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12 December 2020

Cerebral developmental disorders

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12 December 2020

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

1 reference

12 December 2020

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

1 reference

12 December 2020

Severe myoclonic epilepsy in infancy: toward an optimal treatment

1 reference

12 December 2020

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.

1 reference

12 December 2020

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

1 reference

12 December 2020

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

1 reference

12 December 2020

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome

1 reference

12 December 2020

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

1 reference

12 December 2020

Association between genetic variation of CACNA1H and childhood absence epilepsy

1 reference

12 December 2020

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

1 reference

12 December 2020

The spectrum of benign infantile seizures

1 reference

12 December 2020

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

1 reference

12 December 2020

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy

1 reference

12 December 2020

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

1 reference

12 December 2020

Genetic polymorphisms and idiopathic generalized epilepsies.

1 reference

12 December 2020

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

1 reference

12 December 2020

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy

1 reference

12 December 2020

NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity.

1 reference

12 December 2020

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

12 December 2020

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

1 reference

12 December 2020

Mutations in EFHC1 cause juvenile myoclonic epilepsy

1 reference

12 December 2020

10.1007/S00431-008-0690-5

Identifiers

DOI

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18 August 2017

1 reference

PubMed ID

18320221