Etiology
Bouman K,
Dittrich ATM,
Groothuis JT,
van Engelen BGM,
Zweers-van Essen H,
de Baaij-Daalmeyer A,
Janssen MCH,
Erasmus CE,
Draaisma JMT,
Voermans NC
Neuromuscul Disord
2024 Jan;34:105-113.
Epub 2023 Dec 2
doi: 10.1016/j.nmd.2023.11.008.
PMID: 38160563
Bouman K,
van Doorn JLM,
Groothuis JT,
Wijkstra PJ,
van Engelen BGM,
Erasmus CE,
Doorduin J,
Voermans NC
Eur J Paediatr Neurol
2024 Jan;48:30-39.
Epub 2023 Nov 22
doi: 10.1016/j.ejpn.2023.11.005.
PMID: 38008001
Tan D,
Ge L,
Fan Y,
Chang X,
Wang S,
Wei C,
Ding J,
Liu A,
Wang S,
Li X,
Gao K,
Yang H,
Que C,
Huang Z,
Li C,
Zhu Y,
Mao B,
Jin B,
Hua Y,
Zhang X,
Zhang B,
Zhu W,
Zhang C,
Wang Y,
Yuan Y,
Jiang Y,
Rutkowski A,
Bönnemann CG,
Wu X,
Xiong H
Orphanet J Rare Dis
2021 Jul 19;16(1):319.
doi: 10.1186/s13023-021-01950-x.
PMID: 34281576Free PMC Article
Zambon AA,
Ridout D,
Main M,
Mein R,
Phadke R,
Muntoni F,
Sarkozy A
Ann Clin Transl Neurol
2020 Oct;7(10):1870-1882.
Epub 2020 Sep 10
doi: 10.1002/acn3.51172.
PMID: 32910545Free PMC Article
Løkken N,
Born AP,
Duno M,
Vissing J
Muscle Nerve
2015 Oct;52(4):547-53.
Epub 2015 Aug 13
doi: 10.1002/mus.24588.
PMID: 25663498
Diagnosis
Bouman K,
van den Heuvel FMA,
Evertz R,
Boesaard E,
Groothuis JT,
van Engelen BGM,
Nijveldt R,
Erasmus CE,
Udink Ten Cate FEA,
Voermans NC
J Neuromuscul Dis
2024;11(5):919-934.
doi: 10.3233/JND-230190.
PMID: 39177608Free PMC Article
Stojkovic T,
Masingue M,
Métay C,
Romero NB,
Eymard B,
Ben Yaou R,
Rialland L,
Drunat S,
Gartioux C,
Nelson I,
Allamand V,
Bonne G,
Villar-Quiles RN
J Neuromuscul Dis
2023;10(1):125-133.
doi: 10.3233/JND-221555.
PMID: 36373293
Koshorek J,
de Macena Sobreira N,
Saidha S
BMJ Case Rep
2022 Jul 22;15(7)
doi: 10.1136/bcr-2022-249061.
PMID: 35868801Free PMC Article
Tan D,
Ge L,
Fan Y,
Wei C,
Yang H,
Liu A,
Xiao J,
Xiong H,
Zhu Y
Neuromuscul Disord
2021 Nov;31(11):1144-1153.
Epub 2021 Sep 23
doi: 10.1016/j.nmd.2021.09.006.
PMID: 34702656
Natera-de Benito D,
Muchart J,
Itzep D,
Ortez C,
González-Quereda L,
Gallano P,
Ramirez A,
Aparicio J,
Domínguez-Carral J,
Carrera-García L,
Expósito-Escudero J,
Pardo Cardozo N,
Cuadras D,
Codina A,
Jou C,
Jimenez-Mallebrera C,
Palau F,
Colomer J,
Arzimanoglou A,
Nascimento A,
San Antonio-Arce V
Epilepsia
2020 May;61(5):971-983.
Epub 2020 Apr 8
doi: 10.1111/epi.16493.
PMID: 32266982
Therapy
de Laat ECM,
Houwen-van Opstal SLS,
Bouman K,
van Doorn JLM,
Cameron D,
van Alfen N,
Dittrich ATM,
Kamsteeg EJ,
Smeets HJM,
Groothuis JT,
Erasmus CE,
Voermans NC
BMC Neurol
2024 Oct 23;24(1):409.
doi: 10.1186/s12883-024-03852-4.
PMID: 39443859Free PMC Article
Bouman K,
van Doorn JLM,
Groothuis JT,
Wijkstra PJ,
van Engelen BGM,
Erasmus CE,
Doorduin J,
Voermans NC
Eur J Paediatr Neurol
2024 Jan;48:30-39.
Epub 2023 Nov 22
doi: 10.1016/j.ejpn.2023.11.005.
PMID: 38008001
Bouman K,
Groothuis JT,
Doorduin J,
van Alfen N,
Udink Ten Cate FEA,
van den Heuvel FMA,
Nijveldt R,
van Tilburg WCM,
Buckens SCFM,
Dittrich ATM,
Draaisma JMT,
Janssen MCH,
Kamsteeg EJ,
van Kleef ESB,
Koene S,
Smeitink JAM,
Küsters B,
van Tienen FHJ,
Smeets HJM,
van Engelen BGM,
Erasmus CE,
Voermans NC
BMC Neurol
2021 Aug 12;21(1):313.
doi: 10.1186/s12883-021-02336-z.
PMID: 34384384Free PMC Article
Zambon AA,
Ridout D,
Main M,
Mein R,
Phadke R,
Muntoni F,
Sarkozy A
Ann Clin Transl Neurol
2020 Oct;7(10):1870-1882.
Epub 2020 Sep 10
doi: 10.1002/acn3.51172.
PMID: 32910545Free PMC Article
Natera-de Benito D,
Muchart J,
Itzep D,
Ortez C,
González-Quereda L,
Gallano P,
Ramirez A,
Aparicio J,
Domínguez-Carral J,
Carrera-García L,
Expósito-Escudero J,
Pardo Cardozo N,
Cuadras D,
Codina A,
Jou C,
Jimenez-Mallebrera C,
Palau F,
Colomer J,
Arzimanoglou A,
Nascimento A,
San Antonio-Arce V
Epilepsia
2020 May;61(5):971-983.
Epub 2020 Apr 8
doi: 10.1111/epi.16493.
PMID: 32266982
Prognosis
Bouman K,
Dittrich ATM,
Groothuis JT,
van Engelen BGM,
Zweers-van Essen H,
de Baaij-Daalmeyer A,
Janssen MCH,
Erasmus CE,
Draaisma JMT,
Voermans NC
Neuromuscul Disord
2024 Jan;34:105-113.
Epub 2023 Dec 2
doi: 10.1016/j.nmd.2023.11.008.
PMID: 38160563
Koshorek J,
de Macena Sobreira N,
Saidha S
BMJ Case Rep
2022 Jul 22;15(7)
doi: 10.1136/bcr-2022-249061.
PMID: 35868801Free PMC Article
Salvati A,
Bonaventura E,
Sesso G,
Pasquariello R,
Sicca F
Seizure
2021 Oct;91:425-436.
Epub 2021 Jul 21
doi: 10.1016/j.seizure.2021.07.020.
PMID: 34325301
Zambon AA,
Ridout D,
Main M,
Mein R,
Phadke R,
Muntoni F,
Sarkozy A
Ann Clin Transl Neurol
2020 Oct;7(10):1870-1882.
Epub 2020 Sep 10
doi: 10.1002/acn3.51172.
PMID: 32910545Free PMC Article
Natera-de Benito D,
Muchart J,
Itzep D,
Ortez C,
González-Quereda L,
Gallano P,
Ramirez A,
Aparicio J,
Domínguez-Carral J,
Carrera-García L,
Expósito-Escudero J,
Pardo Cardozo N,
Cuadras D,
Codina A,
Jou C,
Jimenez-Mallebrera C,
Palau F,
Colomer J,
Arzimanoglou A,
Nascimento A,
San Antonio-Arce V
Epilepsia
2020 May;61(5):971-983.
Epub 2020 Apr 8
doi: 10.1111/epi.16493.
PMID: 32266982
Clinical prediction guides
Bouman K,
van den Heuvel FMA,
Evertz R,
Boesaard E,
Groothuis JT,
van Engelen BGM,
Nijveldt R,
Erasmus CE,
Udink Ten Cate FEA,
Voermans NC
J Neuromuscul Dis
2024;11(5):919-934.
doi: 10.3233/JND-230190.
PMID: 39177608Free PMC Article
Bouman K,
van Doorn JLM,
Groothuis JT,
Wijkstra PJ,
van Engelen BGM,
Erasmus CE,
Doorduin J,
Voermans NC
Eur J Paediatr Neurol
2024 Jan;48:30-39.
Epub 2023 Nov 22
doi: 10.1016/j.ejpn.2023.11.005.
PMID: 38008001
Tan D,
Ge L,
Fan Y,
Wei C,
Yang H,
Liu A,
Xiao J,
Xiong H,
Zhu Y
Neuromuscul Disord
2021 Nov;31(11):1144-1153.
Epub 2021 Sep 23
doi: 10.1016/j.nmd.2021.09.006.
PMID: 34702656
Zambon AA,
Ridout D,
Main M,
Mein R,
Phadke R,
Muntoni F,
Sarkozy A
Ann Clin Transl Neurol
2020 Oct;7(10):1870-1882.
Epub 2020 Sep 10
doi: 10.1002/acn3.51172.
PMID: 32910545Free PMC Article
Natera-de Benito D,
Muchart J,
Itzep D,
Ortez C,
González-Quereda L,
Gallano P,
Ramirez A,
Aparicio J,
Domínguez-Carral J,
Carrera-García L,
Expósito-Escudero J,
Pardo Cardozo N,
Cuadras D,
Codina A,
Jou C,
Jimenez-Mallebrera C,
Palau F,
Colomer J,
Arzimanoglou A,
Nascimento A,
San Antonio-Arce V
Epilepsia
2020 May;61(5):971-983.
Epub 2020 Apr 8
doi: 10.1111/epi.16493.
PMID: 32266982