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A challenging case of epilepsy in infancy with migrating focal seizures due to a de novo KCNT1 missense variant (c.1438G>A, p.Asp480Asn).
León-Ruiz, Moisés; Alonso-Singer, Pablo; Merino-Andreu, Milagros; Castañeda-Cabrero, Carlos.
Affiliation
  • León-Ruiz M; Section of Clinical Neurophysiology, Department of Neurology, La Paz University Hospital, Madrid, Spain; Pediatric Clinical Neurophysiology Unit, Department of Neurology, La Paz University Hospital, Madrid, Spain. Electronic address: pistolpete271285@hotmail.com.
  • Alonso-Singer P; Refractory Epilepsy Unit, Department of Neurology, La Paz University Hospital, Madrid, Spain.
  • Merino-Andreu M; Section of Clinical Neurophysiology, Department of Neurology, La Paz University Hospital, Madrid, Spain; Pediatric Clinical Neurophysiology Unit, Department of Neurology, La Paz University Hospital, Madrid, Spain; Pediatric Sleep Disorders Unit, Department of Neurology, La Paz University Hospital, M
  • Castañeda-Cabrero C; Section of Clinical Neurophysiology, Department of Neurology, La Paz University Hospital, Madrid, Spain; Pediatric Clinical Neurophysiology Unit, Department of Neurology, La Paz University Hospital, Madrid, Spain.
Seizure ; 117: 202-205, 2024 Apr.
Article in En | MEDLINE | ID: mdl-38461786
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense Limits: Female / Humans / Infant / Male Language: En Journal: Seizure Journal subject: NEUROLOGIA Year: 2024 Document type: Article Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense Limits: Female / Humans / Infant / Male Language: En Journal: Seizure Journal subject: NEUROLOGIA Year: 2024 Document type: Article Country of publication: Reino Unido