Genetic generalized epilepsies
WB Gallentine, MA Mikati - Journal of Clinical Neurophysiology, 2012 - journals.lww.com
In the International League Against Epilepsy's most recent revision of classification and
terminology, the term idiopathic epilepsy, previously used to describe those epilepsies …
terminology, the term idiopathic epilepsy, previously used to describe those epilepsies …
ADGRV1 is implicated in myoclonic epilepsy
KA Myers, S Nasioulas, A Boys, JM McMahon… - …, 2018 - Wiley Online Library
Objective To investigate the significance of variation in ADGRV 1 (also known as GPR 98,
MASS 1, and VLGR 1), MEF 2C, and other genes at the 5q14. 3 chromosomal locus in …
MASS 1, and VLGR 1), MEF 2C, and other genes at the 5q14. 3 chromosomal locus in …
KIF2A regulates the development of dentate granule cells and postnatal hippocampal wiring
N Homma, R Zhou, MI Naseer, AG Chaudhary… - Elife, 2018 - elifesciences.org
Kinesin super family protein 2A (KIF2A), an ATP-dependent microtubule (MT) destabilizer,
regulates cell migration, axon elongation, and pruning in the developing nervous system …
regulates cell migration, axon elongation, and pruning in the developing nervous system …
Interstitial deletion 5q14. 3q21. 3 with MEF2C haploinsufficiency and mild phenotype: when more is less
V Tonk, JH Kyhm, CE Gibson… - American journal of …, 2011 - Wiley Online Library
An 18‐year‐old female with mild mental disability (global IQ 69), febrile seizures with
subsequent myoclonic/grand mal epilepsy, and subtle morphologic changes is described …
subsequent myoclonic/grand mal epilepsy, and subtle morphologic changes is described …
Клинико-генетическая гетерогенность юношеской миоклонической эпилепсии
НА Шнайдер, ОС Шилкина, КВ Петров… - Эпилепсия и …, 2016 - cyberleninka.ru
Идиопатические генерализованные эпилепсии составляют примерно одну треть всех
эпилепсий. Юношеская миоклоническая эпилепсия (ЮМЭ, синдром Янца) …
эпилепсий. Юношеская миоклоническая эпилепсия (ЮМЭ, синдром Янца) …
A locus for juvenile myoclonic epilepsy maps to 2q33–q36
R Ratnapriya, J Vijai, JS Kadandale, RS Iyer… - Human genetics, 2010 - Springer
We performed a whole genome linkage analysis in a three-generation south Indian family
with multiple members affected with juvenile myoclonic epilepsy (JME). The maximum two …
with multiple members affected with juvenile myoclonic epilepsy (JME). The maximum two …
Association of the GRM4 gene variants with juvenile myoclonic epilepsy in an Indian population
2003; Muhle et al. 2010). The GRM4 gene, which codes for the metabotropic glutamate
receptor 4 (mGluR4), regulates the glutamatergic neurotransmission and chemicals that …
receptor 4 (mGluR4), regulates the glutamatergic neurotransmission and chemicals that …
[HTML][HTML] Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del (22)(q11. 2))—Causal relationship or coincidence?
We report on an adolescent female with Velocardiofacial syndrome (del (22)(q11. 2)) and an
epilepsy phenotype resembling juvenile myoclonic epilepsy (JME). Clinically, the patient …
epilepsy phenotype resembling juvenile myoclonic epilepsy (JME). Clinically, the patient …
Clinical and genetic heterogenity of juvenile myoclonic epilepsy
NA Shnayder, OS Shilkina, KV Petrov… - Epilepsy and …, 2016 - epilepsia.su
The idiopathic generalized epilepsies constitute roughly one-third of all epilepsies. Juvenile
myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening …
myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening …
Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family
S Layouni, A Salzmann, M Guipponi, D Mouthon… - Epilepsy research, 2010 - Elsevier
Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsies
(IGEs), affecting 12–30% of all epilepsies in medical centers. To date genetic linkage studies …
(IGEs), affecting 12–30% of all epilepsies in medical centers. To date genetic linkage studies …