Results 111 to 120 of about 1,995 (192)

Successful Immunosuppressive Treatment of Spinal Segmental Myoclonus in GlyR Antibody-Associated Stiff-Person Spectrum Disorder/PERM Spectrum. [PDF]

J Mov Disord
Yang Y, Zhang Y, Xiao P, Zeng T, Zhang X, Tang Y.   +5 more
europepmc   +1 more source

A New GlyT2 Variant Associated with Hyperekplexia. [PDF]

Int J Mol Sci
Sarmiento-Jiménez J, Felipe R, Núñez E, Ferrando-Muñoz A, Benito-Muñoz C, Gago F, Vázquez J, Camafeita E, Clement E, Wilson B, López-Corcuera B.   +10 more
europepmc   +1 more source

Severe Microcephaly and Metabolic Epilepsy due to Asparagine Synthetase Deficiency. [PDF]

Ann Indian Acad Neurol, 2023
Saini AG, Gunasekaran PK, Chaudhary I, Bhatia V.   +3 more
europepmc   +1 more source

Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features. [PDF]

Iran J Child Neurol
Özgün N, Saka Güvenç M.
europepmc   +1 more source

Role of the Glycine Transporter GlyT2 in the Neuronal Differentiation of PC12 Cells. [PDF]

Int J Mol Sci
Sarmiento-Jiménez J, Morales-González B, Núñez E, Martínez-Blanco E, Zafra F, Díez-Guerra FJ, López-Corcuera B.   +6 more
europepmc   +1 more source

An Adult Case of Genetically Confirmed Hyperekplexia Presenting with Head Trauma. [PDF]

NMC Case Rep J
Baba N, Kawataki T, Taketani T, Kinouchi H.   +3 more
europepmc   +1 more source

Hereditary hyperekplexia [PDF]

, 2020
openaire   +1 more source

A novel GLRB mutation in neonatal hyperekplexia with divergent EEG findings: a case series. [PDF]

Ann Med Surg (Lond)
Tamimi M, Oweidat M, Atawneh H, Alra'e M, Amr B, Gharaibiah M, Aldwaik M, Alqam M.   +7 more
europepmc   +1 more source

BRAT1 Mutation - A Developmental and Epileptic Encephalopathy with a Recognizable Phenotype. [PDF]

Ann Indian Acad Neurol
Kamate M, Basanagouda T.
europepmc   +1 more source

Hyperekplexia: Unveiling a Rare Neurological Condition With a Treatable Solution. [PDF]

Cureus
Aglave NR, Sontakke RA, Bokade C, Jhunjhunwala K.   +3 more
europepmc   +1 more source