Lethal neonatal spasticity-epileptic encephalopathy syndrome
Synonyms: Lethal neonatal rigidity-multifocal seizure syndrome
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures with episodic jerking already beginning in utero. Affected infants have small heads remain visually inattentive do not feed independently and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy although some cases were described with a milder clinical course and survival into childhood.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Lethal neonatal spasticity-epileptic encephalopathy syndrome?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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