Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

[1] Berg AT(2010)Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009 Epilepsia 51 676-685

[2] Berkovic SF(2001)A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology Epilepsia 42 796-803

[3] Brodie MJ(1997)Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 Am J Hum Genet 61 889-898

[4] Buchhalter J(1995)Paroxysmal dyskinesias: clinical features and classification Ann Neurol 38 571-579

[5] Cross JH(2011)Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Nat Genet 43 1252-1255

[6] van Emde Boas W(2012)PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome Am J Hum Genet 90 152-160

[7] Engel J(2011)Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias Brain 134 3493-3501

[8] French J(2012)Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions Cell Rep 1 2-12

[9] Glauser TA(1992)Benign infantile familial convulsions Eur J Pediatr 151 608-612

[10] Mathern GW(2000)Early recognition of benign partial epilepsy in infancy Epilepsia 41 714-717

[1] Berg AT(2010)Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009 Epilepsia 51 676-685

[2] Berkovic SF(2001)A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology Epilepsia 42 796-803

[3] Brodie MJ(1997)Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 Am J Hum Genet 61 889-898

[4] Buchhalter J(1995)Paroxysmal dyskinesias: clinical features and classification Ann Neurol 38 571-579

[5] Cross JH(2011)Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Nat Genet 43 1252-1255

[6] van Emde Boas W(2012)PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome Am J Hum Genet 90 152-160

[7] Engel J(2011)Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias Brain 134 3493-3501

[8] French J(2012)Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions Cell Rep 1 2-12

[9] Glauser TA(1992)Benign infantile familial convulsions Eur J Pediatr 151 608-612

[10] Mathern GW(2000)Early recognition of benign partial epilepsy in infancy Epilepsia 41 714-717