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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, Silke ; Balling, Rudi ; Barisic, Nina ; [et al.]

Elsevier BV ; 2017

In: The American Journal of Human Genetics Vol. 100, No. 1 ( 2017-01), p. 179-

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 100, No. 1 ( 2017-01), p. 179-

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2016.12.012

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XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 1473813-2

SSG: 12

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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Motelow, Joshua E. ; Povysil, Gundula ; Dhindsa, Ryan S. ; [et al.]

Elsevier BV ; 2021

In: The American Journal of Human Genetics Vol. 108, No. 6 ( 2021-06), p. 965-982

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 108, No. 6 ( 2021-06), p. 965-982

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2021.04.009

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 1473813-2

SSG: 12

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, Silke ; Balling, Rudi ; Barisic, Nina ; [et al.]

Elsevier BV ; 2014

In: The American Journal of Human Genetics Vol. 95, No. 4 ( 2014-10), p. 360-370

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 95, No. 4 ( 2014-10), p. 360-370

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2014.08.013

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2014

detail.hit.zdb_id: 1473813-2

SSG: 12

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, Arvid ; Jaehn, Johanna A. ; Kecskés, Angela ; [et al.]

Elsevier BV ; 2013

In: The American Journal of Human Genetics Vol. 93, No. 5 ( 2013-11), p. 967-975

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 93, No. 5 ( 2013-11), p. 967-975

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2013.09.017

RVK:

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Language: English

Publisher: Elsevier BV

Publication Date: 2013

detail.hit.zdb_id: 1473813-2

SSG: 12

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Helbig, Ingo ; Lopez-Hernandez, Tania ; Shor, Oded ; [et al.]

Elsevier BV ; 2019

In: The American Journal of Human Genetics Vol. 104, No. 6 ( 2019-06), p. 1060-1072

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 104, No. 6 ( 2019-06), p. 1060-1072

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2019.04.001

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1473813-2

SSG: 12

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Feng, Yen-Chen Anne ; Howrigan, Daniel P. ; Abbott, Liam E. ; [et al.]

Elsevier BV ; 2019

In: The American Journal of Human Genetics Vol. 105, No. 2 ( 2019-08), p. 267-282

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 105, No. 2 ( 2019-08), p. 267-282

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2019.05.020

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2019

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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Motelow, Joshua E. ; Povysil, Gundula ; Dhindsa, Ryan S. ; [et al.]

Elsevier BV ; 2021

In: The American Journal of Human Genetics Vol. 108, No. 10 ( 2021-10), p. 2024-

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 108, No. 10 ( 2021-10), p. 2024-

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2021.08.008

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 1473813-2

SSG: 12

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