Benign Familial Neonatal Epilepsy
Last Posted: Dec 13, 2017
- Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Zeng Qi, et al. Journal of human genetics 2017 11
- Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Milh M, et al. Orphanet journal of rare diseases 2013 5 (1) 1
- Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Heron Sarah E, et al. Epilepsia 2013 5 (5) e86-9
- Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Ishii A, et al. Brain & development 2012 10
- Benign familial neonatal epilepsy
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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