Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy

被引：11

作者：

Spagnoli, Carlotta ^{[1
]}

Soliani, Luca ^{[1
]}

Caraffi, Stefano Giuseppe ^{[2
]}

Baga, Margherita ^{[1
]}

Rizzi, Susanna ^{[1
]}

Salerno, Grazia Gabriella ^{[1
]}

Frattini, Daniele ^{[1
]}

Garavelli, Livia ^{[2
]}

Koskenvuo, Juha ^{[3
]}

Pisani, Francesco ^{[4
]}

Fusco, Carlo ^{[1
]}

机构：

[1] Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Struttura Complessa Neuropsichiatria Infantile, Reggio Emilia, Italy

[2] Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Struttura Semplice Dipartimentale Genet Clin, Dipartimento Maternoinfantile, Reggio Emilia, Italy

[3] Blueprint Genet, Helsinki, Finland

[4] Univ Parma, Med & Surg Dept, Neurosci Div, Child Neuropsychiatry Unit, Parma, Italy

来源：

PARKINSONISM & RELATED DISORDERS | 2020年 / 76卷

关键词：

RHOBTB2; Epileptic encephalopathy; Movement disorder; Neurogenetics; Carbamazepine; VARIANTS;

D O I：

10.1016/j.parkreldis.2020.05.031

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：54 / 55

页数：2

共 50 条

[21] Dramatic response to carbamazepine in a patient with epileptic encephalopathy related to a de novo CACNA1A mutation
Pinna, F.
Corda, D.
Fois, C.
Maccabeo, A.
Defazio, G.
Sechi, G.
Solla, P.
EUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 579 - 579
[22] De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy
Latsko, Maeson S.
Koboldt, Daniel C.
Franklin, Samuel J.
Hickey, Scott E.
Williamson, Rachel K.
Garner, Shannon
Ostendorf, Adam P.
Lee, Kristy
White, Peter
Wilson, Richard K.
COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (04):
[23] Patient outcomes in KCNQ2 developmental and epileptic encephalopathy: Systematic literature review
Maclaine, G.
Potashman, M. H.
Pawar, D.
Sharma, S.
Rudell, K.
Lerner, J.
Coric, V.
Berg, A. T.
Millichap, J.
L'Italien, G.
EPILEPSIA, 2024, 65 : 374 - 375
[24] KCNQ2-DEE: developmental or epileptic encephalopathy?
Berg, Anne T.
Mahida, Sonal
Poduri, Annapurna
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2021, 8 (03): : 666 - 676
[25] Reader response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
Fung, Eva L. W.
NEUROLOGY, 2020, 94 (08) : 369 - 369
[26] Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
Vlaskamp, Danique R. M.
Scheffer, Ingrid E.
NEUROLOGY, 2020, 94 (08) : 370 - 370
[27] Epileptic encephalopathy, movement disorder, and the yin and yang of GNAO1 function
Pearson, Toni S.
Helbig, Ingo
NEUROLOGY, 2017, 89 (08) : 754 - 755
[28] Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathy
Mao, Miaomiao
Jancovski, Nikola
Kushner, Yafit
Teasdale, Lucas
Truong, Phan
Zhou, Kun
Reid, Samuel
Jia, Linghan
Aung, Ye Htet
Li, Melody
Reid, Christopher A.
Byars, Sean
Scheffer, Ingrid
Petrou, Steven
Maljevic, Snezana
NEUROBIOLOGY OF DISEASE, 2025, 205
[29] PAROXYSMAL MOVEMENT DISORDER AND EPILEPTIC SEIZURES ASSOCIATED WITH ANTI-VGKC ANTIBODY ENCEPHALITIS
Coppens, S.
Legros, B.
EPILEPSIA, 2011, 52 : 30 - 30
[30] KCNQ2 Epileptic Encephalopathy Related Movement Disorders
De La Torre, A.
Pardo, A.
Blackburn, J.
Millichap, J.
ANNALS OF NEUROLOGY, 2018, 84 : S370 - S370

← 1 2 3 4 5 →