TY - JOUR
T1 - Genetic analysis of genes associated with epilepsy
AU - Guerri, Giulia
AU - Castori, Marco
AU - D'Agruma, Leonardo
AU - Petracca, Antonio
AU - Kurti, Danjela
AU - Bertelli, Matteo
N1 - Copyright:
This record is sourced from MEDLINE/PubMed, a database of the U.S. National Library of Medicine
PY - 2020/11/9
Y1 - 2020/11/9
N2 - BACKGROUND AND AIM: Epilepsy is a neurological disorder in which the altered activity of neurons causes convulsions, periods of unusual behavior and, sometimes, loss of consciousness. The aim of this mini-review is to summarize all the syndromes characterized by epilepsy and for which the associated gene is known. METHODS: We searched those syndromes in PubMed and OMIM database. RESULTS: Genetic causes underlie epilepsy in about 40% of individuals. Epilepsies are phenotypically and genetically heterogeneous. Inheritance can be autosomal dominant or recessive or X-linked recessive/dominant. CONCLUSION: Since epilepsy has high genetic heterogeneity, in diagnostics, the parallel sequencing of a panel of genes may speed up the determination of the molecular etiology and/or establish a risk of recurrence in family members for the purpose of planning appropriate preventive and/or therapeutic measures.
AB - BACKGROUND AND AIM: Epilepsy is a neurological disorder in which the altered activity of neurons causes convulsions, periods of unusual behavior and, sometimes, loss of consciousness. The aim of this mini-review is to summarize all the syndromes characterized by epilepsy and for which the associated gene is known. METHODS: We searched those syndromes in PubMed and OMIM database. RESULTS: Genetic causes underlie epilepsy in about 40% of individuals. Epilepsies are phenotypically and genetically heterogeneous. Inheritance can be autosomal dominant or recessive or X-linked recessive/dominant. CONCLUSION: Since epilepsy has high genetic heterogeneity, in diagnostics, the parallel sequencing of a panel of genes may speed up the determination of the molecular etiology and/or establish a risk of recurrence in family members for the purpose of planning appropriate preventive and/or therapeutic measures.
UR - http://www.scopus.com/inward/record.url?scp=85096079924&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85096079924&partnerID=8YFLogxK
U2 - 10.23750/abm.v91i13-S.10596
DO - 10.23750/abm.v91i13-S.10596
M3 - Article
C2 - 33170158
AN - SCOPUS:85096079924
VL - 91
SP - e2020005
JO - Acta Biomedica de l'Ateneo Parmense
JF - Acta Biomedica de l'Ateneo Parmense
SN - 0392-4203
IS - 13S
ER -