KPTN gene homozygous variant‐related syndrome in the northeast of Brazil: A case report-Reference-Cited by-同舟云学术

KPTN gene homozygous variant‐related syndrome in the northeast of Brazil: A case report

Published:2020-01-30 Issue:4 Volume:182 Page:762-767
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lucena Pedro H.¹^ORCID,Armani‐Franceschi Giulia²,Bispo‐Torres Ana Cecília²,Bandeira Igor D.²³^ORCID,Lucena Mariana F. G.¹,Maldonado Igor⁴⁵⁶,Veiga Marielza F.⁷,Miguel Diego⁷,Lucena Rita²

Affiliation:

1. Departamento de MedicinaEscola Bahiana de Medicina e Saúde Pública Salvador Brazil

2. Departamento de Neurociências e Saúde Mental, Faculdade de Medicina da BahiaUniversidade Federal da Bahia Salvador Brazil

3. Programa de Pós‐Graduação em Medicina e Saúde, Faculdade de Medicina da BahiaUniversidade Federal da Bahia Salvador Brazil

4. Le Studium Loire Valley Institute for Advanced Studies Orleans France

5. UMR 1253, iBrainUniversité de Tours, Inserm Tours France

6. CHRU de Tours Tours France

7. Hospital Universitário Professor Edgard SantosUniversidade Federal da Bahia Salvador Brazil

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61492

Reference16 articles.

1. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes

2. Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

3. 2E4 (Kaptin): A novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear

4. 2E4/Kaptin (KPTN) - a candidate gene for the hearing loss locus, DFNA4

5. Rab39, a novel Golgi-associated Rab GTPase from human dendritic cells involved in cellular endocytosis

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1. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes;Brain;2023-07-12

2. Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy;Frontiers in Neurology;2023-01-10

3. Clinical and genetic characterization of patients segregating variants in KPTN , MINPP1 , NGLY1 , AP4B1 , and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion;International Journal of Developmental Neuroscience;2022-10-11

4. Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes;2022-07-16

5. Pathogenic variants in KPTN , a rare cause of macrocephaly and intellectual disability;American Journal of Medical Genetics Part A;2020-08-18