New genes for focal epilepsies with speech and language disorders (Q38447528)

3 September 2017

1 reference

title

New genes for focal epilepsies with speech and language disorders (English)

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Erratum to: New Genes for Focal Epilepsies with Speech and Language Disorders

3 September 2017

corrigendum / erratum

1 reference

10.1007/S11910-015-0578-5

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1007/S11910-015-0578-5

author

Angela Morgan

2

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3 September 2017

4

Ingrid E Scheffer

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author name string

Samantha J Turner

1

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3 September 2017

Eliane Roulet Perez

3

1 reference

3 September 2017

Ingrid E Scheffer

4

1 reference

3 September 2017

publication date

1 June 2015

1 reference

Current Neurology and Neuroscience Reports

3 September 2017

published in

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3 September 2017

volume

15

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3 September 2017

issue

6

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3 September 2017

page(s)

35

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Syndrome of acquired aphasia with convulsive disorder in children

3 September 2017

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1 reference

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Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate

21 January 2018

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

21 January 2018

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Speech and oromotor deficits of epileptic origin in benign partial epilepsy of childhood with rolandic spikes (BPERS). Relationship to the acquired aphasia-epilepsy syndrome

21 January 2018

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21 January 2018

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Benign childhood focal epilepsies

21 January 2018

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The neuropsychological and language profile of children with benign rolandic epilepsy

21 January 2018

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Neuropsychological disorders related to interictal epileptic discharges during sleep in benign epilepsy of childhood with centrotemporal or Rolandic spikes

21 January 2018

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Neuropsychological findings in children with benign childhood epilepsy with centrotemporal spikes.

21 January 2018

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EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy

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Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes

21 January 2018

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Language in benign childhood epilepsy with centro-temporal spikes abbreviated form: rolandic epilepsy and language

21 January 2018

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Language dysfunction in children with Rolandic epilepsy.

21 January 2018

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Written language skills in children with benign childhood epilepsy with centrotemporal spikes

21 January 2018

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Children with focal sharp waves: clinical and genetic aspects

21 January 2018

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SRPX2 mutations in disorders of language cortex and cognition

21 January 2018

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

21 January 2018

1 reference

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Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.

21 January 2018

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Landau-Kleffner syndrome: course and correlates with outcome

21 January 2018

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21 January 2018

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The Landau-Kleffner syndrome of acquired epileptic aphasia: unusual clinical outcome, surgical experience, and absence of encephalitis

21 January 2018

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Landau-Kleffner syndrome (LKS): long-term follow-up and links with electrical status epilepticus during sleep (ESES).

21 January 2018

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Serum autoantibodies to brain in Landau-Kleffner variant, autism, and other neurologic disorders

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Coexistence of idiopathic rolandic epilepsy and CSWS in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Towards the identification of a genetic basis for Landau-Kleffner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Experience-dependent slow-wave sleep development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Domain interaction between NMDA receptor subunits and the postsynaptic density protein PSD-95

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Molecular determinants of agonist discrimination by NMDA receptor subunits: analysis of the glutamate binding site on the NR2B subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Heteromeric NMDA receptors: molecular and functional distinction of subtypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Importance of the intracellular domain of NR2 subunits for NMDA receptor function in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Expression of N-methyl-D-aspartate receptor subunit mRNAs in the human brain: hippocampus and cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Neuronal and glial localization of NR1 and NR2A/B subunits of the NMDA receptor in the human cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

N-methyl-D-aspartate receptor subunit NR2A and NR2B messenger RNA levels are altered in the hippocampus and entorhinal cortex in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Differential expression of N-methyl-D-aspartate receptor NR2 isoforms in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Abnormalities of the NMDA Receptor and Associated Intracellular Molecules in the Thalamus in Schizophrenia and Bipolar Disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Neural bases of childhood speech disorders: lateralization and plasticity for speech functions during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Language fMRI abnormalities associated with FOXP2 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

GRIN2A: an aptly named gene for speech dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

A forkhead-domain gene is mutated in a severe speech and language disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

An extended family with a dominantly inherited speech disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Phenotype of FOXP2 haploinsufficiency in a mother and son.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Neural basis of an inherited speech and language disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

FOXP2 targets show evidence of positive selection in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Rare copy number variants are an important cause of epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Copy number variations in patients with electrical status epilepticus in sleep

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Shining a light on CNTNAP2: complex functions to complex disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

CNVs: harbingers of a rare variant revolution in psychiatric genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Ten questions about terminology for children with unexplained language problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Specific language impairment: a convenient label for whom?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Motor speech profile in relation to site of brain pathology: a developmental perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Is benign rolandic epilepsy genetically determined?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0554-0

Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis

21 January 2018

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12 December 2020

Acquired epileptic aphasia: neuropsychologic follow-up of 12 patients

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12 December 2020

Cognitive function in adolescents and young adults in complete remission from benign childhood epilepsy with centro-temporal spikes.

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12 December 2020

Children with speech and language disability: caseload characteristics

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12 December 2020

A role of autoimmunity in the etiopathogenesis of Landau-Kleffner syndrome?

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Landau-Kleffner syndrome: Six patients including discordant monozygotic twins

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12 December 2020

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

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12 December 2020

Atypical benign partial epilepsy of childhood.

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12 December 2020

Mental and behavioural deterioration of children with epilepsy and CSWS: acquired epileptic frontal syndrome.

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12 December 2020

Neuropsychological, intellectual, and behavioral findings in patients with centrotemporal spikes with and without seizures

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12 December 2020

Clusters of Deviant Speech Dimensions in the Dysarthrias

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12 December 2020

Selective alterations in gene expression for NMDA receptor subunits in prefrontal cortex of schizophrenics

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12 December 2020

Differential Diagnostic Patterns of Dysarthria

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12 December 2020

Prolonged intermittent drooling and oromotor dyspraxia in benign childhood epilepsy with centrotemporal spikes

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12 December 2020

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

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12 December 2020

Definitions of communication disorders and variations. Ad Hoc Committee on Service Delivery in the Schools. American Speech-Language-Hearing Association

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Expression of N-methyl-D-aspartate receptor subunit mRNAs in the human brain: striatum and globus pallidus

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12 December 2020

10.1007/S11910-015-0554-0

Identifiers

DOI

1 reference

Dimensions Publication ID

3 September 2017

1045944896

0 references

1 reference