Co-Occurring Methylenetetrahydrofolate Reductase (

MTHFR Rett Syndrome clinical severity pharmacogenomics remethylation

Journal

Brain sciences
ISSN: 2076-3425
Titre abrégé: Brain Sci
Pays: Switzerland
ID NLM: 101598646

Informations de publication

Date de publication:
21 Jun 2024
Historique:
received: 17 05 2024
revised: 18 06 2024
accepted: 19 06 2024
medline: 27 7 2024
pubmed: 27 7 2024
entrez: 27 7 2024
Statut: epublish

Résumé

Remethylation disorders such as 5,10-methylenetetrahydrofolate reductase ( Using pharmacogenomic (PGx) testing, the The clinical severity symptom distribution varied between the homozygous and heterozygous Our findings show that in those with a pathogenic RTT genetic variant, co-occurring homozygotic

Identifiants

DOI: 10.3390/brainsci14070624 PMID: 39061365
pubmed: 39061365
pii: brainsci14070624
doi: 10.3390/brainsci14070624
pii:
doi:

Types de publication

Journal Article

Langues

eng

Subventions

Organisme : Reverse Rett
ID : RE16403

Auteurs

Jatinder Singh (J)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust, London SE5 8AZ, UK.
Centre for Interventional Paediatric Psychopharmacology (CIPP) Rett Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.

Georgina Wilkins (G)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust, London SE5 8AZ, UK.
Centre for Interventional Paediatric Psychopharmacology (CIPP) Rett Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
ORCID: 0009-0007-0884-8494

Ella Goodman-Vincent (E)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust, London SE5 8AZ, UK.
Centre for Interventional Paediatric Psychopharmacology (CIPP) Rett Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.

Samiya Chishti (S)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust, London SE5 8AZ, UK.
Centre for Interventional Paediatric Psychopharmacology (CIPP) Rett Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.

Ruben Bonilla Guerrero (R)

Genetica Consulting Services, Laguna Niguel, CA 92677, USA.
ORCID: 0000-0003-0907-6530

Leighton McFadden (L)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust, London SE5 8AZ, UK.
Centre for Interventional Paediatric Psychopharmacology (CIPP) Rett Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.

Zvi Zahavi (Z)

Myogenes Limited, Borehamwood WD6 4PJ, UK.

Paramala Santosh (P)

Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust, London SE5 8AZ, UK.
Centre for Interventional Paediatric Psychopharmacology (CIPP) Rett Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
ORCID: 0000-0003-4830-5893

Classifications MeSH