Epilepsy, absence - Open Access .click

Results 141 to 150 of about 2,035,560 (322)

Typical Absence Seizures and Related Epilepsy Syndromes

Archives of Epilepsy, 2018
Typical absence (TA) seizures are brief generalized seizures of abrupt onset and termination characterized by loss of awareness with subtle motor features.
Demet KINAY
doaj +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed +16 more
wiley +1 more source

Huperzine A suppresses absence seizures in the genetic absence epilepsy rat from Strasbourg (GAERS) model of genetic generalized epilepsy with absence seizures

Epilepsia Open
Objective We evaluated huperzine A treatment in the Genetic Absence Epilepsy Rat from Strasbourg (GAERS) model of genetic generalized epilepsy (GGE) with absence seizures.
Pablo M. Casillas‐Espinosa +6 more
doaj +1 more source

Observations on the relationship between verbal explicit and implicit memory and neuronal density in the left and right hippocampus in temporal lobectomy patients. [PDF]

, 1998
The relationship between neuronal density and verbal memory in left and right hippocampal subfields was investigated in patients who underwent surgery for alleviation of temporal lobe epilepsy.
Beardsworth, Elizabeth, Esiri, Margaret, Zaidel, Dahlia W. +2 more
core

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source

Epilepsie im Kindesalter: Wann kann die antiepileptische Therapie abgesetzt werden?: Eine Meinungsäußerung des Königsteiner Arbeitskreises [PDF]

, 2018
: The Königsteiner Arbeitskreis (KA) discussed the optimal timing of discontinuation of antiepileptic drugs (AE) in children. Because the controlled trials are rare and inconsistent it was decided to publish the results of the discussion and the approach
Albani, Michael +8 more
core

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

Maori and epilepsy: Personal perceptions of the cause, treatment and consequences of epilepsy by Maori in the Bay of Plenty [PDF]

, 1999
This paper discusses the perceptions of epilepsy held by Maori in the Bay of Plenty. The paper begins by introducing the purpose and rationale of the research.
Simonsen, Kiri
core +1 more source

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi +2 more
wiley +1 more source

3. good health
electroencephalography
child

male
anticonvulsants
female

pediatrics
rc346-429
neurology. diseases of the nervous system