Results 61 to 70 of about 5,101 (164)

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic encephalopathy.
KCNQ2 Study Group, Pisano T, Giordano L, Van Coster R, Rostasy K, Weckhuysen S, Casara G, Guerrini R, Benkel I, Lemke JR, Albrecht B, Ceulemans B, Haberlandt E, Bevot A, Sheidley B, Ivanovic V, De Jonghe P, Gronborg S, Striano P, Horvath R, Hjalgrim H, Eltze C, Suls A, Heavin SB, Angriman M, Scheffer I, Marini C, Poduri A, Mandelstam S, Moller RS, Syrbe S, Hendrickx R, Schoonjans AS   +32 more
core   +4 more sources

Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review

Molecular Genetics & Genomic Medicine, 2022
Background Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal‐onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first‐line ...
Jun Chen, Qiuji Tao, Lijuan Fan, Yajun Shen, Jinfeng Liu, Huan Luo, Zuozhen Yang, Mengmeng Liang, Jing Gan   +8 more
doaj   +1 more source

Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C)

Stem Cell Research, 2023
KCNQ2 encodes the potassium-gated voltage channel Kv7.2, responsible for the M−current, which contributes to neuronal resting membrane potential. Pathogenic variants in KCNQ2 cause early onset epilepsies, developmental and epileptic encephalopathies.
Rachel Stewart, Cloe Gadoud, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen   +6 more
doaj   +1 more source

KCNQ2 encephalopathy [PDF]

, 2016
Objective: To advance the understanding of KCNQ2 encephalopathy genotype–phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments.
Park, Kristen, On Behalf of the RIKEE Consortium, Millichap, John, Carmant, Lionel, Tsuchida, Tammy N., Ben-Zeev, Bruria   +5 more
core  

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source

KCNQ2-related disorders

, 2016
: Clinical characteristics. KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes caused by a heterozygous pathogenic variant in KCNQ2.
Miceli, Francesco, Weckhuysen, Sarah, Cooper, Edward C., Taglialatela, Maurizio, Soldovieri, Maria Virginia, Joshi, Nishta   +5 more
core   +1 more source

KCNQ2 variants in neonatal onset of self-limiting epilepsy

Case Reports in Perinatal Medicine
To describe the clinical presentation and response to medication in two cases of self-limiting KCNQ2-related epilepsy.
Mundasad Shruthi, Hart Anthony R., Robinson Hannah K., Greenough Anne   +3 more
doaj   +1 more source

Silence around SUDEP and its impact on caregivers of individuals with developmental and epileptic encephalopathies: An international survey

Epilepsia Open, EarlyView.
Abstract Objective Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of epilepsy‐related mortality, particularly in individuals with Developmental and Epileptic Encephalopathies (DEEs). The goal of this work is to assess SUDEP‐related knowledge, information practices, emotional and psychological impact, and the use of preventive measures
José Ángel Aibar, Ana Cantó Martínez, David Alarcón Alarcón, Eulalia Turón‐Viñas, Rima Nabbout, Isabella Brambilla, Franck Kalume, Danielle Andrade, Simona Giorgi   +8 more
wiley   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source