Birk-Barel Mental Retardation Dysmorphism Syndrome

Also Known As:

Birk-Barel Syndrome; Birk-Barel intellectual disability syndrome; KCNK9 imprinting syndrome; Mental Retardation with Hypotonia and Facial Dysmorphism

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

1.	Mathie, Alistair: 2 articles (11/2017 - 03/2014)
2.	Veale, Emma L: 2 articles (11/2017 - 03/2014)
3.	Bruckman-Blanco, Wilmarie J: 1 article (06/2021)
4.	De Jesús-Rojas, Wilfredo: 1 article (06/2021)
5.	Frontanes-Heredia, Abymael: 1 article (06/2021)
6.	Ramirez-Arenalde, Michael A: 1 article (06/2021)
7.	Santiago-Castro, Sherry L: 1 article (06/2021)
8.	Akhtar, Junaid: 1 article (01/2020)
9.	Butto, Tamer: 1 article (01/2020)
10.	Cooper, Alexis: 1 article (01/2020)

Drugs and Important Biological Agents (IBA) related to Birk-Barel Mental Retardation Dysmorphism Syndrome:

1.	Potassium Channels (Potassium Channel)IBA 03/01/2014 - "Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome." 08/01/2008 - "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9."
2.	PotassiumIBA 06/01/2021 - "Birk-Barel syndrome, alternatively known as KCNK9 imprinting syndrome, is caused by a missense mutation in the potassium two pore domain channel subfamily K member 9 (KCNK9) gene on chromosome 8q24.3. This syndrome demonstrates dominant inheritance and is imprinted with paternal silencing, where the paternally inherited allele is silenced, and the maternally inherited allele is active. "
3.	Histones (Histone)IBA 01/01/2020 - "Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome."
4.	Amino Acids FDA Link 01/01/2020 - "Our case suggests that Birk Barel syndrome may not be caused only by variants leading to amino-acid exchange p.Gly236Arg but also by other missense variant in this gene and that peripheral motor neuropathy might be a feature of this syndrome."
5.	Terbinafine (Lamisil)FDA LinkGeneric 11/04/2017 - "To confirm Terbinafine's activation of TASK3 whole cell patch clamp electrophysiology was carried out and clear potentiation observed in both the wild type channel and the pathophysiological, Birk-Barel syndrome associated, G236R TASK3 mutant. "

1.	Noninvasive Ventilation 06/01/2021 - "We describe the first known case of Puerto Rican ethnicity, a 16-month-old female born prematurely at 36-weeks with Birk-Barel syndrome, confirmed with whole-exome sequencing, and her response to non-invasive ventilation as a treatment for her sleep breathing disorder."