(Q57041043)

1

Jacques L Michaud

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Elsa Rossignol

13

Elsa Rossignol

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Patrick Cossette

10

Patrick Cossette

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Heather C. Mefford

11

Heather C Mefford

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Emmanuelle Lemyre

9

Emmanuelle Lemyre

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Paola Diadori

6

Paola Diadori

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author name string

Mathieu Lachance

2

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Fadi F Hamdan

3

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Lionel Carmant

4

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Anne Lortie

5

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Philippe Major

7

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Inge A Meijer

Infantile spasms: West syndrome.

8

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language of work or name

English

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publication date

15 September 2014

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published in

Human Molecular Genetics

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volume

23

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issue

18

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page(s)

4846-58

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

West syndrome associated with mosaic Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Infantile spasms in a patient with williams syndrome and craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

A case of Pallister-Killian syndrome associated with West syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Key clinical features to identify girls with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Attention-deficit hyperactivity disorder and binge eating disorder in a patient with 2q21.1-q22.2 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Regional distribution of cortical interneurons and development of inhibitory tone are regulated by Cxcl12/Cxcr4 signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Chemokine signaling controls intracortical migration and final distribution of GABAergic interneurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

CXCR4 is required for proper regional and laminar distribution of cortical somatostatin-, calretinin-, and neuropeptide Y-expressing GABAergic interneurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

CXCR4 and CXCR7 have distinct functions in regulating interneuron migration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Distinct modifications in Kv2.1 channel via chemokine receptor CXCR4 regulate neuronal survival-death dynamics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Neurexin-neuroligin signaling in synapse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Reconstitution of the vital functions of Munc18 and Munc13 in neurotransmitter release

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

CDKL5 and ARX mutations in males with early-onset epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Phenotypic spectrum associated with CASK loss-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Proteomics analysis of immuno-precipitated synaptic protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Deletion of CASK in mice is lethal and impairs synaptic function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

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/10.1093%2FHMG%2FDDU199

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Microarray analysis in children with developmental disorder or epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Epilepsy and the new cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Differential expression of Dicer and Argonaute genes during the differentiation of human neuroblastoma cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

COUP-TFI coordinates cortical patterning, neurogenesis, and laminar fate and modulates MAPK/ERK, AKT, and beta-catenin signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Perlecan controls neurogenesis in the developing telencephalon

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Properties of the glucocorticoid modulatory element binding proteins GMEB-1 and -2: potential new modifiers of glucocorticoid receptor transactivation and members of the family of KDWK proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

COUP-TFI promotes radial migration and proper morphology of callosal projection neurons by repressing Rnd2 expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

The membrane-associated protein, supervillin, accelerates F-actin-dependent rapid integrin recycling and cell motility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Transmembrane semaphorin5B is proteolytically processed into a repulsive neural guidance cue.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Latrophilin 1 and its endogenous ligand Lasso/teneurin-2 form a high-affinity transsynaptic receptor pair with signaling capabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Laminin-alpha2 chain-like antigens in CNS dendritic spines

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU199