Results 111 to 120 of about 8,423 (186)

Home-cage behavior in Scn1a^+/- mice.

, 2019
(A) 8-10week-old Scn1a+/- mice (n = 15, 8 male) were hypoactive compared with littermate WT mice (n = 13, 8 male, genotype x hour F21,546 = 2.21, p) without significant differences in sheltering or feeding entries (p>0.1). (B) Time budgets for A.
Vaishnav Krishnan (7832624), Miranda J. Jankovic (7832618), Paarth P. Kapadia (7832621)   +2 more
core   +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

Genotype-phenotype associations in SCN1A-related epilepsies

, 2011
Objective: Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome.
Duncan, J., Zuberi, S., R. Birch, A. Brunklaus, Birch, R., G. H. Forbes, Reavey, E., Forbes, G.H., E. Reavey, Brunklaus, A., S. M. Zuberi, J. Duncan   +11 more
core   +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

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Not all SCN1A epileptic encephalopathies are Dravet syndrome

, 2017
Objective:To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.Methods:A case series of 9 children were identified with a profound developmental and epileptic encephalopathy ...
Candace T. Myers, Emily I. Mountier, Katherine C. Nickels, Gemma Carvill, Ingrid E. Scheffer, Simone Mandelstam, Charuta Joshi, Heather C. Mefford, Lynette G. Sadleir, Manju A. Kurian, Catherine DeVile, null null, Hema R. Murali, Deepak Gill, Elaine Wirrell, Suzanne Davis   +15 more
core   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

The SCN1A gene variants and epileptic encephalopathies

, 2013
The voltage-gated sodium channels are fundamental units that evoke the action potential in excitable cells such as neurons. These channels are integral membrane proteins typically consisting of one α-subunit, which forms the larger central pore of the ...
Rashmi Parihar, Subramaniam Ganesh, Ganesh, Subramaniam, Parihar, Rashmi   +3 more
core   +1 more source

Dravet Syndrome: A Primer for Behavior Analysts

Behavioral Interventions, Volume 41, Issue 4, November 2026.
ABSTRACT Dravet syndrome (DS) is a rare and severe developmental and epileptic encephalopathy that is characterized by prolonged seizures beginning in the first year of life, followed by debilitating and complex features, including sleep disturbances, feeding problems, social‐emotional difficulties, speech deficits, and cognitive and motor impairments.
Isabel B. Hayes, Kasey E. Bedard, A. Delyla Ulm, Veronica Robbins‐Hood   +3 more
wiley   +1 more source