Cyclic seizures in lethal neonatal rigidity and multifocal seizure syndrome: expanding the phenotype of a rare entity

Autores da FMUP

• João De Almeida Lopes Da Fonseca

  Autor

Participantes de fora da FMUP

• Gorito, V
• Rocha, H
• Melo, C.
• Pinheiro, M
• Ferreras, C
• Leao, M
• Sampaio, M
• Alves, D
• Sousa, RAB -

Unidades de investigação

• Laboratório Associado RISE- Rede de Investigação em Saúde

  

  Investigador

  Fernando Carlos De Landér Schmitt

• Medicina da Comunidade, Informação e Decisão em Saúde

• RISE-Health

  

  Investigador

  Fernando Carlos De Landér Schmitt

Abstract

[No abstract available]

Keywords

• Humans; Infant, Newborn; Muscle Rigidity; Phenotype; Seizures; Syndrome; clonazepam; levetiracetam; phenobarbital; Article; birth weight; body weight loss; case report; cerebrospinal fluid; clinical article; cyanosis; electroencephalography; fatty acid desaturation; focal epilepsy; frameshift mutation; hippocampus; human; hyperreflexia; male; microcephaly; multiple organ failure; muscle hypertonia; myoclonus; newborn; nuclear magnetic resonance imaging; phenotype; Purkinje cell; retrognathia; rigidity; genetics; mortality; muscle rigidity; phenotype; seizure; syndrome