Zobrazeno 1 - 10
of 117
pro vyhledávání: '"FAMILIAL INFANTILE CONVULSIONS"'
Autor:
J Gordon Millichap
Publikováno v:
Pediatric Neurology Briefs, Vol 26, Iss 11, Pp 84-85 (2012)
A team of twelve geneticists and neurologists from centers in the Netherlands studied the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile co
Externí odkaz:
https://doaj.org/article/18f0cccb232c460e881e751bf2acb031
Autor:
J Gordon Millichap
Publikováno v:
Pediatric Neurology Briefs, Vol 13, Iss 11, Pp 85-86 (1999)
The association of vitamin B12 deficiency and benign familial infantile convulsions (BFIC) is reported in one 4-month-old boy admitted to the University Hospital, Lund, Sweden, and in an additional 4 of 14 infants with BFIC who were found to have hom
Externí odkaz:
https://doaj.org/article/6fb133a9e791402c98021f91ecbc04cb
Autor:
Teun W. van Strien, Wim H.J.P. Linssen, Anne-Fleur van Rootselaar, Anthony A.J. Hilgevoord, Alexander J. Groffen, Marina A. J. Tijssen
Publikováno v:
Parkinsonism & Related Disorders, 18(5), 645-648. Elsevier
Parkinsonism and Related Disorders, 18(5), 645-648. Elsevier BV
Parkinsonism & related disorders, 18(5), 645-648. Elsevier BV
van Strien, T W, van Rootselaar, A F, Hilgevoord, A A J, Linssen, W H J P, Groffen, A J A & Tijssen, M A J 2012, ' Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin ', Parkinsonism and Related Disorders, vol. 18, no. 5, pp. 645-648 . https://doi.org/10.1016/j.parkreldis.2012.03.006
Parkinsonism and Related Disorders, 18(5), 645-648. Elsevier BV
Parkinsonism & related disorders, 18(5), 645-648. Elsevier BV
van Strien, T W, van Rootselaar, A F, Hilgevoord, A A J, Linssen, W H J P, Groffen, A J A & Tijssen, M A J 2012, ' Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin ', Parkinsonism and Related Disorders, vol. 18, no. 5, pp. 645-648 . https://doi.org/10.1016/j.parkreldis.2012.03.006
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f1c6a3167d8f7f6228002236e0717df
https://hdl.handle.net/1871/42565
https://hdl.handle.net/1871/42565
Autor:
Giorgio Casari, Renzo Guerrini, Filippo Martinelli Boneschi, Federico Zara, Paolo Aridon, Giancarlo Comi, Carla Marini, Maurizio De Fusco
Publikováno v:
Neuroscience Letters. 388:71-74
A missense mutation in the gene encoding the alpha(2) Subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e3c33e3b5580f9f6c1b0e537a8aaf8
https://doi.org/10.1016/j.neulet.2005.06.026
https://doi.org/10.1016/j.neulet.2005.06.026
Publikováno v:
Clinical Genetics. 67(6):517-525
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::a331202b985b177f9b3d2e81622626dd
https://doi.org/10.1111/j.1399-0004.2005.00445.x
https://doi.org/10.1111/j.1399-0004.2005.00445.x
Publikováno v:
European Journal of Paediatric Neurology. 9(2):91-103
The identification of the first genes associated with idiopathic epilepsy has been an important breakthrough in the field of epilepsy research. In almost all cases these genes were found to encode components of voltage- or ligand-gated ion channels o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af70043d745eb920906002ffb8a82e26
https://doi.org/10.1016/j.ejpn.2004.12.005
https://doi.org/10.1016/j.ejpn.2004.12.005
Publikováno v:
Seizure. 21:740-742
Purpose Mutations in the PRRT2 gene have been recently described as a cause of paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome and, less often, infantile convulsions. We have analysed the frequency of PRRT2 muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183451711ef7ecf60d43c9823ed566c3
https://doi.org/10.1016/j.seizure.2012.07.006
https://doi.org/10.1016/j.seizure.2012.07.006
Publikováno v:
Epileptic disorders. 4:S9-S21
Growing evidence indicates that the effects of antiepileptic drugs on childhood epilepsies are partly linked to the specific type of epilepsy or epilepsy syndrome. Most (but not all) types of epilepsy can be classified into categories that are concep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::1ba173c98503c8b192348393efa92d1e
https://hdl.handle.net/11370/7742c31d-3599-4537-b6f2-76c9db1c578c
https://hdl.handle.net/11370/7742c31d-3599-4537-b6f2-76c9db1c578c
Publikováno v:
Epileptic disorders. 4:9-21
Growing evidence indicates that the effects of antiepileptic drugs on childhood epilepsies are partly linked to the specific type of epilepsy or epilepsy syndrome. Most (but not all) types of epilepsy can be classified into categories that are concep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01423::a0bfba35ac29e5d9123192ae0660ea0c
https://research.rug.nl/en/publications/7742c31d-3599-4537-b6f2-76c9db1c578c
https://research.rug.nl/en/publications/7742c31d-3599-4537-b6f2-76c9db1c578c
Autor:
Robert ten Houten, Gisela M. Terwindt, Rune R. Frants, Dick Lindhout, Gerard Hageman, Willem F. M. Arts, Oebele F. Brouwer, Alla A Vein, Petra M.C. Callenbach, René de Coo, Jan C. Oosterwijk
Publikováno v:
European Journal of Paediatric Neurology, 6, 269-283. W.B. Saunders
European Journal of Paediatric Neurology, 6(5), 269-283. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 6(5), 269-283. ELSEVIER SCI LTD
Benign familial infantile convulsions (BFIC) is a recently identified partial epilepsy syndrome with onset between 3 and 12 months of age. We describe the clinical characteristics and outcome of 43 patients with BFIC from six Dutch families and one D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d662b2d35000ee7dfcf81a31bf6fc04
https://research.rug.nl/en/publications/4bcd6b1b-efc6-4356-8018-db1883909e8e
https://research.rug.nl/en/publications/4bcd6b1b-efc6-4356-8018-db1883909e8e