The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1476-5438

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study ; day:14 ; month:12 ; year:2018 ; pages:1-14
European journal of human genetics ; (14.12.2018), 1-14

Creator: Papuc, Sorina M.
Abela, Lucia
Steindl, Katharina
Begemann, Anaïs
Simmons, Thomas L.
Schmitt, Bernhard
Zweier, Markus
Oneda, Beatrice
Socher, Eileen
Crowther, Lisa M.
Wohlrab, Gabriele
Gogoll, Laura
Poms, Martin
Seiler, Michelle
Papik, Michael
Baldinger, Rosa
Baumer, Alessandra
Asadollahi, Reza
Kroell-Seger, Judith
Schmid, Regula
Iff, Tobias
Schmitt-Mechelke, Thomas
Otten, Karoline
Hackenberg, Annette Marie
Addor, Marie-Claude
Klein, Andrea
Azzarello-Burri, Silvia
Sticht, Heinrich
Joset, Pascal
Plecko, Barbara
Rauch, Anita

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41431-018-0299-8

URN: urn:nbn:de:101:1-2019013122040060794503

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:49 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Papuc, Sorina M.
Abela, Lucia
Steindl, Katharina
Begemann, Anaïs
Simmons, Thomas L.
Schmitt, Bernhard
Zweier, Markus
Oneda, Beatrice
Socher, Eileen
Crowther, Lisa M.
Wohlrab, Gabriele
Gogoll, Laura
Poms, Martin
Seiler, Michelle
Papik, Michael
Baldinger, Rosa
Baumer, Alessandra
Asadollahi, Reza
Kroell-Seger, Judith
Schmid, Regula
Iff, Tobias
Schmitt-Mechelke, Thomas
Otten, Karoline
Hackenberg, Annette Marie
Addor, Marie-Claude
Klein, Andrea
Azzarello-Burri, Silvia
Sticht, Heinrich
Joset, Pascal
Plecko, Barbara
Rauch, Anita
SpringerLink (Online service)

Other Objects (12)

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report

Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report

Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report

Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report

Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report

Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report

Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

Related objects

Reset password