SPTAN1 encephalopathy: distinct phenotypes and genotypes (Q30886525)

27 June 2017

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title

SPTAN1 encephalopathy: distinct phenotypes and genotypes (English)

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27 June 2017

Hirotomo Saitsu

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Mitsuhiro Kato

object named as

Mitsuhiro Kato

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author name string

Jun Tohyama

1

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27 June 2017

Mitsuko Nakashima

2

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27 June 2017

Shin Nabatame

3

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27 June 2017

Ch'ng Gaik-Siew

4

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27 June 2017

Rie Miyata

5

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27 June 2017

Zvonka Rener-Primec

6

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27 June 2017

Naomichi Matsumoto

8

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27 June 2017

29 January 2015

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Journal of Human Genetics

27 June 2017

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27 June 2017

60

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27 June 2017

4

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27 June 2017

167-173

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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

27 June 2017

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

21 January 2018

Epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

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/10.1038%2FJHG.2015.5

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/10.1038%2FJHG.2015.5

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Genetic and biologic classification of infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

A genetic diagnostic approach to infantile epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Genes of early-onset epileptic encephalopathies: from genotype to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

alphaII-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Spectrin mutations cause spinocerebellar ataxia type 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

21 January 2018

Hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Intellectual disability without epilepsy associated with STXBP1 disruption

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

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/10.1038%2FJHG.2015.5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Clinical neuroimaging features and outcome in molybdenum cofactor deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.5

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

21 January 2018

1 reference

12 December 2020

Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues

1 reference

12 December 2020

Genetic testing of epileptic encephalopathies of infancy: an approach.

1 reference

12 December 2020

Polyalanine expansion of ARX associated with cryptogenic West syndrome

1 reference

12 December 2020

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

1 reference

12 December 2020

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

1 reference

12 December 2020

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

1 reference

12 December 2020

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

1 reference

12 December 2020

Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy

1 reference

12 December 2020

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

1 reference

12 December 2020

Identifiers

DOI

10.1038/JHG.2015.5

1 reference

27 June 2017

1 reference