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by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Philip and Jones, Elizabeth and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Bennett, David and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, John R and Bradley, Lisa and Brady, Angela and Brady, Angie and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA | Allelomorphism | Gene mutations | Epilepsy | Development and progression | Genetic aspects | Research | Risk factors | Report
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 12/2014, Volume 31, Issue 6, p. 679
To analyze the phenotypes and proline-rich transmenbrane protein 2 (PRRT2) gene mutations in patients of infantile convulsions with paroxysmal choreoathetosis... 
Seizures - genetics | Membrane Proteins - genetics | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Infant | Male | Nerve Tissue Proteins - genetics | Young Adult | Point Mutation | Phenotype | Epilepsy, Benign Neonatal - genetics | Pedigree | Base Sequence | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Dyskinesias - genetics
Journal Article
No to hattatsu = Brain and development, ISSN 0029-0831, 01/2003, Volume 35, Issue 1, p. 59
We present here a 5-year-old girl with acute encephalities with refractory, repetitive partial seizures (AERRPS), a new clinical entity defined by the... 
Recurrence | Acute Disease | Encephalitis - physiopathology | Humans | Child, Preschool | Dyskinesias - physiopathology | Female | Remission, Spontaneous | Encephalitis - complications | Dyskinesias - etiology | Epilepsies, Partial - etiology | Epilepsies, Partial - physiopathology
Journal Article
No to shinkei = Brain and nerve, ISSN 0006-8969, 10/2002, Volume 54, Issue 10, p. 919
We report a 52-year-old Japanese woman who developed dyskinesia, epilepsy, and gait disturbance. She was well until 35 years of age, when she noted the onset... 
Humans | Middle Aged | Cerebellar Ataxia - etiology | Myoclonic Epilepsies, Progressive - complications | Female | Myoclonic Epilepsies, Progressive - genetics | Dyskinesias - etiology | Epilepsy - etiology | Gait Disorders, Neurologic - etiology | Myoclonic Epilepsies, Progressive - pathology
Journal Article
by Go, T
No to hattatsu = Brain and development, ISSN 0029-0831, 07/1999, Volume 31, Issue 4, p. 366
I reported here girl with localization-related epilepsy who developed particular involuntary movements (IVMs) with a therapeutic dosis of carbamazepine. An... 
Dyskinesia, Drug-Induced - etiology | Epilepsy, Tonic-Clonic - drug therapy | Anticonvulsants - adverse effects | Carbamazepine - adverse effects | Epilepsies, Partial - drug therapy | Humans | Female | Child
Journal Article
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