Results 181 to 190 of about 8,409,709 (279)

X-linked intellectual disability, Cabezas type [PDF]

, 2020
openaire   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability. [PDF]

Ann Neurol
Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH.   +38 more
europepmc   +1 more source

X-linked intellectual disability, Cilliers type [PDF]

, 2020
openaire   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

X-linked Intellectual Disability with Novel Chromosome 9p12-pter Unbalanced Translocation on Chromosome Xp. [PDF]

Intern Med
Maeda K, Sugihara Y.
europepmc   +1 more source

X-linked intellectual disability, Najm type [PDF]

, 2020
openaire   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

A novel variant of ATRX gene is potentially associated with alpha-thalassemia X-linked intellectual disability syndrome: Case report and literature review. [PDF]

SAGE Open Med Case Rep
Sarah B, Amal T, Bouchaib G, Hind D.
europepmc   +1 more source

X-linked intellectual disability, Armfield type [PDF]

, 2020
openaire   +1 more source