Estudios más relevantes en PCDH19

Sobre medicación en PCDH19

(Para médicos)

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

Lotte J, Bast T, Borusiak P, Coppola A, Cross JH, Dimova P, Fogarasi A, Graneß I, Guerrini R, Hjalgrim H, Keimer R, Korff CM, Kurlemann G, Leiz S, Linder-Lucht M, Loddenkemper T, Makowski C, Mühe C, Nicolai J, Nikanorova M, Pellacani S, Philip S, Ruf S, Sánchez Fernández I, Schlachter K, Striano P, Sukhudyan B, Valcheva D, Vermeulen RJ, Weisbrod T, Wilken B, Wolf P, Kluger G.

Seizure. 2016 Feb;35:106-10. doi: 10.1016/j.seizure.2016.01.006. Epub 2016 Jan 6.

Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy.

Trivisano M, Specchio N, Vigevano F.

Eur J Paediatr Neurol. 2015 Mar;19(2):248-50. doi: 10.1016/j.ejpn.2014.11.008. Epub 2014 Nov 29.

PMID: 25510386
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Sobre los síntomas

Clinical characteristics of PCDH19-female limited epilepsy

Chen Y, Yang XL, Liu AJ, Sun D, Yang Y, Zhang J, Chen JY, Yang ZX, Jiang YW, Wu XR, Zhang YH.

Zhonghua Er Ke Za Zhi. 2019 Nov 2;57(11):857-862. doi: 10.3760/cma.j.issn.0578-1310.2019.11.008. Chinese.

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy

Vlaskamp DRM, Bassett AS, Sullivan JE, Robblee J, Sadleir LG, Scheffer IE, Andrade DM.

Epilepsia. 2019 Mar;60(3):429-440. doi: 10.1111/epi.14678. Epub 2019 Mar 3.

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern

Niazi R, Fanning EA, Depienne C, Sarmady M, Abou Tayoun AN.

Hum Mutat. 2019 Mar;40(3):243-257. doi: 10.1002/humu.23701. Epub 2019 Jan 10.

Avances en modelos animales

Autism-like behaviors in male mice with a Pcdh19 deletion

Lim J, Ryu J, Kang S, Noh HJ, Kim CH.

Mol Brain. 2019 Nov 20;12(1):95. doi: 10.1186/s13041-019-0519-3.

Multiplane Calcium Imaging Reveals Disrupted Development of Network Topology in Zebrafish pcdh19 Mutants

Light SEW, Jontes JD.

eNeuro. 2019 May 17;6(3). pii: ENEURO.0420-18.2019. doi: 10.1523/ENEURO.0420-18.2019. Print 2019 May/Jun.

PMID: 31061071

Sobre las causas

TBR2 coordinates neurogenesis expansion and precise microcircuit organization via Protocadherin 19 in the mammalian cortex