Clinical review of genetic epileptic encephalopathies.

European Journal of Medical Genetics
Grace J NohJohn M Graham

Abstract

Seizures are a frequently encountered finding in patients seen for clinical genetics evaluations. The differential diagnosis for the cause of seizures is quite diverse and complex, and more than half of all epilepsies have been attributed to a genetic cause. Given the complexity of such evaluations, we highlight the more common causes of genetic epileptic encephalopathies and emphasize the usefulness of recent technological advances. The purpose of this review is to serve as a practical guide for clinical geneticists in the evaluation and counseling of patients with genetic epileptic encephalopathies. Common syndromes will be discussed, in addition to specific seizure phenotypes, many of which are refractory to anti-epileptic agents. Divided by etiology, we overview the more common causes of infantile epileptic encephalopathies, channelopathies, syndromic, metabolic, and chromosomal entities. For each condition, we will outline the diagnostic evaluation and discuss effective treatment strategies that should be considered.

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Citations

Jan 2, 2016·European Journal of Medical Genetics·Natalia BabkinaJohn M Graham
Jan 30, 2016·Indian Journal of Pediatrics·Jaina Patel, Saadet Mercimek-Mahmutoglu
May 30, 2015·Pediatric Clinics of North America·Abeer J HaniMohamad A Mikati
Aug 13, 2013·American Journal of Human Genetics·Lina Basel-VanagaiteGuntram Borck
Feb 9, 2019·Journal of Inherited Metabolic Disease·Alfonso Oyarzabal, Isaac Marin-Valencia
Jul 26, 2017·Journal of Neurochemistry·Snezana MaljevicSteven Petrou
Mar 9, 2020·Molecular Genetics and Genomics : MGG·Paul J DunnLyn R Griffiths
Dec 4, 2019·Archives of Disease in Childhood. Education and Practice Edition·Denise Crozier, Katherine Martin
Sep 1, 2017·Annals of Neurology·Yongjin YooMurim Choi
Jul 25, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Esra IsikFerda Ozkinay
Nov 26, 2020·Journal of Clinical Medicine·Min-Jee KimBeom Hee Lee
Oct 26, 2021·Human Cell·Jordan H WhitlockBrittany N Lasseigne

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