Results 111 to 120 of about 5,459 (165)

Successful bilateral electroconvulsive therapy for catatonia presenting with novel climbing behavior in an adolescent with <i>CACNA1A</i> pathogenic variant and autism spectrum disorder: a case report. [PDF]

Front Psychiatry
Abdole L, Reynard HL, Ince HY, Palffy A, Jackson J, Ghaziuddin N.   +5 more
europepmc   +1 more source

Neural Correlates of Intellectual Dysfunction in Episodic Ataxia Type 2. [PDF]

J Clin Neurol
Kim HJ, Lee ES, Kim S, Lee SH, Kim JM, Na S, Choi JY, Choi JH, Kim JS.   +8 more
europepmc   +1 more source

Hemiplegic migraine: genetics and pathophysiology. [PDF]

J Clin Invest
Pietrobon D.
europepmc   +1 more source

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies

Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness.
Cormand Rifà, Bru, Pons, Roser, Corominas Castiñeira, Roser, Fernández Castillo, Noelia, Macaya Ruiz, Alfons, Vila Pueyo, Marta, Sobrido, María Jesús, Valverde, Miguel Ángel, Fernández-Fernández, José Manuel, Llaneza, Miguel, Grinberg Vaisman, Daniel Raúl, Toma, Claudio, Serra, Selma Angèlica, Carreño, Oriel, González Gené, Gemma, Sintas Vives, Cèlia   +15 more
core  

Intellectual disability and structural defects of the CaV2.1 channel in episodic ataxia type 2: correlation using an AI prediction model. [PDF]

J Neurol
Kim HJ, Lee JO, Lee S, Kim S, Kim JS.
europepmc   +1 more source

Investigating genetic susceptibility to concussion through rare variants in ion channel and neurotransmission genes. [PDF]

J Neurol
Maher BH, Maksemous N, Sutherland HG, Smith RA, Dabash O, Greenhow A, Nasralla FA, Nyholt DR, van den Maagdenberg AMJM, Lea RA, Griffiths LR.   +10 more
europepmc   +1 more source

Adrenergic receptor activation triggers stress-induced dystonia in a CACNA1A mutant mouse model. [PDF]

Front Neurosci
Bohne P, Grömmke M, Rybarski M, Nair T, Mark MD.   +4 more
europepmc   +1 more source

Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants. [PDF]

Diagnostics (Basel)
Damian GC, Belengeanu V, Popescu C, Marian D, Popovici RA, Cojocariu C.   +5 more
europepmc   +1 more source

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders. [PDF]

Stem Cell Reports
Hommersom MP, Puvogel S, Scheefhals N, Carpentiero E, Bouma M, van Beusekom E, Dillen L, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H.   +9 more
europepmc   +1 more source

Case Report: Thymoma-associated stiff person syndrome and myasthenia gravis: an index case with exploratory exome sequencing and review of reported cases. [PDF]

Front Oncol
Zhao L, Fang L, Tang M, Zhang K, Liu W, Qiang M.   +5 more
europepmc   +1 more source