Publications:

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: PRRT2: 916G>A; Ala306Thr

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.

Epilepsy & Behavior Case Reports

El Achkar, Christelle Moufawad CM; Rosen Sheidley, Beth B; O'Rourke, Declan D; Takeoka, Masanori M; Poduri, Annapurna A

Publication Date: 2019

Variant appearance in text: PRRT2: 916G>A; Ala306Thr

PubMed Link: 31193310

Variant Present in the following documents:

• Main text

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Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Cns Neuroscience & Therapeutics

Zhao, Shao-Yun SY; Li, Li-Xi LX; Chen, Yu-Lan YL; Chen, Yi-Jun YJ; Liu, Gong-Lu GL; Dong, Hai-Lin HL; Chen, Dian-Fu DF; Li, Hong-Fu HF; Wu, Zhi-Ying ZY

Publication Date: 2020-01

Variant appearance in text: ICCA: 916G>A

PubMed Link: 31124310

Variant Present in the following documents:

• Main text
• CNS-26-39.pdf

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Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.

Bmc Neurology

Yang, Xiaoling X; Zhang, Yuehua Y; Xu, Xiaojing X; Wang, Shuang S; Yang, Zhixian Z; Wu, Ye Y; Liu, Xiaoyan X; Wu, Xiru X

Publication Date: 2013-12-26

Variant appearance in text: ICCA: 916G>A

PubMed Link: 24370076

Variant Present in the following documents:

• 1471-2377-13-209-S2.xlsx, sheet 1

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PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

Neurology

Marini, Carla C; Conti, Valerio V; Mei, Davide D; Battaglia, Domenica D; Lettori, Donatella D; Losito, Emma E; Bruccini, Grazia G; Tortorella, Gaetano G; Guerrini, Renzo R

Publication Date: 2012-11-20

Variant appearance in text: PRRT2: 916G>A

PubMed Link: 23077026

Variant Present in the following documents:

• Main text

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