PuSH - Publication Server of Helmholtz Zentrum München: BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Engel, C.* ; Valence, S.* ; Delplancq, G.* ; Maroofian, R.* ; Accogli, A.* ; Agolini, E.* ; Alkuraya, F.S.* ; Baglioni, V.* ; Bagnasco, I.* ; Becmeur-Lefebvre, M.* ; Bertini, E.* ; Borggraefe, I.* ; Brischoux-Boucher, E.* ; Bruel, A.L.* ; Brusco, A.* ; Bubshait, D.K.* ; Cabrol, C.* ; Cilio, M.R.* ; Cornet, M.C.* ; Coubes, C.* ; Danhaive, O.* ; Delague, V.* ; Denommé-Pichon, A.S.* ; Di Giacomo, M.C.* ; Doco-Fenzy, M.* ; Engels, H.* ; Cremer, K.* ; Gerard, M.* ; Gleeson, J.G.* ; Heron, D.* ; Goffeney, J.* ; Guimier, A.* ; Harms, F.L.* ; Houlden, H.* ; Iacomino, M.* ; Kaiyrzhanov, R.* ; Kamien, B.* ; Karimiani, E.G.* ; Kraus, D.* ; Kuentz, P.* ; Kutsche, K.* ; Lederer, D.* ; Massingham, L.* ; Mignot, C.* ; Morris-Rosendahl, D.* ; Nagarajan, L.* ; Odent, S.* ; Ormieres, C.* ; Partlow, J.N.* ; Pasquier, L.* ; Penney, L.* ; Philippe, C.* ; Piccolo, G.* ; Poulton, C.* ; Putoux, A.* ; Rio, M.* ; Rougeot, C.* ; Salpietro, V.* ; Scheffer, I.* ; Schneider, A.* ; Srivastava, S.* ; Straussberg, R.* ; Striano, P.* ; Valente, E.M.* ; Venot, P.* ; Villard, L.* ; Vitobello, A.* ; Wagner, J.* ; Wagner, M. ; Zaki, M.S.* ; Zara, F.* ; Lesca, G.* ; Yassaee, V.R.* ; Miryounesi, M.* ; Hashemi-Gorji, F.* ; Beiraghi, M.* ; Ashrafzadeh, F.* ; Galehdari, H.* ; Walsh, C.* ; Novelli, A.* ; Tacke, M.* ; Sadykova, D.* ; Maidyrov, Y.* ; Koneev, K.* ; Shashkin, C.* ; Capra, V.* ; Zamani, M.* ; van Maldergem, L.* ; Burglen, L.* ; Piard, J.*

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Eur. J. Hum. Genet. 31, 1023-1031 (2023)

Postprint

DOI

PMC

	Open Access Green

Abstract
Metrics
Extra information

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). Thirty-eight individuals presented a non-lethal phenotype of BRAT1-related NEDCAS phenotype. Seventy-six percent of the patients in this group were able to walk and 68% were able to say at least a few words. Most of them had cerebellar ataxia (82%), axial hypotonia (79%) and cerebellar atrophy (100%). Genotype-phenotype correlations in our cohort revealed that biallelic nonsense, frameshift or inframe deletion/insertion variants result in the severe BRAT1-related RMFSL phenotype (46/46; 100%). In contrast, genotypes with at least one missense were more likely associated with NEDCAS (28/34; 82%). The phenotype of patients carrying splice variants was variable: 41% presented with RMFSL (7/17) and 59% with NEDCAS (10/17).

Impact Factor

Scopus SNIP

Web of Science
Times Cited

Scopus
Cited By

Altmetric

5.200

1.676