Citations for
1BFIS2, PRRT2
Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.
Vlachou V, Chu V, Pavlidou E, Ismayilova N, Kshitij M, Kinali M.
Indian J Pediatr ndian J Pediatr. 2017 Dec 18. doi: 10.1007/s12098-017-2568-x. [Epub ahead of print] No abstract available. 2017
2BFIS2, EKD1, ICCA, PRRT2
PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.
Am J Hum Genet 90(1):152-60. 2012
3BFIS2, PRRT2
PRRT2 mutations are the major cause of benign familial infantile seizures.
Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG.
Hum Mutat 33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11. 2012