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Arthrogryposis multiplex congenita and SCN1A mutations: Another reported case and treatment guidance

The SCN1A gene encodes the Nav1.1 protein, a protein involved with the voltage-dependent sodium channels found in the brain and spinal cord [Hernandez et al., 2021]. It is believed that 80% of those with an SCN1A mutation will develop some form of epilepsy, such as Dravet syndrome, genetic epilepsy with febrile seizures plus (GEF+), or intractable childhood epilepsy with generalized tonic-clonic seizures, also known as severe idiopathic generalized epilepsy of infancy [Hernandez et al., 2021]. The association between arthrogryposis multiplex congenita (AMC) and de novo SCN1A mutations was first described by Jaber et al. in 2020. The same group has found this association in a total of 35 patients to date. This case report will be the 36th patient with an isolated SCN1A mutation, AMC, and refractory epileptic seizures presenting in infancy. We will discuss the details of the pregnancy, birth, and postnatal treatment plan of this patient in an effort to provide guidance for potential treatment options in future cases.
Keywords: arthrogryposis multiplex congenita, SCN1A, epilepsy

Alyssa Robison
Marian University College of Osteopathic Medicine
United States

Charlotte Hollman
Baton Rouge Clinic
United States

 

 


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