Results 91 to 100 of about 7,462 (203)

Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome

Epilepsy & Behavior Reports
Miller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3.
Masataka Fukuoka, Ichiro Kuki, Yuka Hattori, Hitomi Tsuji, Asako Horino, Megumi Nukui, Takeshi Inoue, Shin Okazaki, Noritsugu Kunihiro, Takehiro Uda   +9 more
doaj   +1 more source

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

American Journal of Perinatology Reports, 2014
Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema.
Linda Mahgoub, Khalid Aziz, Dawn Davies, Norma Leonard   +3 more
doaj   +1 more source

Aberrant sorting of hippocampal complex pyramidal cells in type I lissencephaly alters topological innervation

eLife, 2020
Layering has been a long-appreciated feature of higher order mammalian brain structures but the extent to which it plays an instructive role in synaptic specification remains unknown.
James A D'Amour, Tyler Ekins, Stuti Ganatra, Xiaoqing Yuan, Chris J McBain   +4 more
doaj   +1 more source

An infant with isolated Lissencephaly

Neurosciences, 2001
Lissencephaly or agyria is a prototype of disorders of neuronal migration, a rare type of hereditary malformation of the brain, which manifests with smooth cerebral surface, poorly defined sylvian fissures with thickened cerebral cortical mantle. A case of an infant with isolated variety is presented highlighting some of the major associated clinical ...
S, Jouini, A S, Al-Awashiz, G I, Izoura
openaire   +2 more sources

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

, 2011
Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. Methods: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened ...
Oostra, AnnUGent801001870844972401982708F72B4A8A-F0ED-11E1-A9DE-61C894A0A6B4, Desprechins, B, Oostra, Ann, B. Desprechins, Jansen, AC, De Vlaeminck, Y, Bockaert, N, P. Verloo, Keymolen, K, Y. De Vlaeminck, W. Lissens, Seneca, S, Verhelst, HeleneGE35UZGent0019871446268020014817120000-0001-9433-79980136DDBE-F0EE-11E1-A9DE-61C894A0A6B4, De Meirleir, L, Regal, L, S. Seneca, L. Regal, N. Bockaert, K. Keymolen, L. De Meirleir, Verhelst, Helene, Lissens, W, H. Verhelst, A. Oostra, VERLOO, PATRICK, A. C. Jansen, VERLOO, PATRICKGE35UZGent0019920957678020045379190000-0003-2077-02751868fe89-8279-11ee-93ae-e96c8f1c45ee   +26 more
core   +1 more source

X-Linked Lissencephaly with Absent Corpus Callosum

, 2002
Three new cases of the congenital syndrome consisting of X-linked lissencephaly, absent corpus callosum, and genital anomalies (XLAG) are reported from the University Hospital, Angers ...
J Gordon Millichap
core   +1 more source

The assessment of fetal behavior of a fetus with lissencephaly by 4D ultrasound

, 2013
Lissencephaly is malformation of gyral and sulcal structures of the cerebrum as a result of abnormal neuronal migration. The most common clinical manifestations of lissencephaly are severe psychomotor retardation, developmental defects, seizures, failure
Gönenç G., Güdücü N., Yi?iter A.B., Işçi H.   +3 more
core   +1 more source

Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I)

The Turkish Journal of Pediatrics, 2007
Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems.
Serdal Güngör, Dilek Yalnizoğlu, Güzide Turanli, Işil Saatçi, Emel Erdoğan-Bakar, Meral Topçu   +5 more
doaj   +1 more source

Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs [PDF]

, 2013
Background Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral ...
Delgado, L., Suárez-Vega, Aroa, Fuertes Franco, Miguel, Miguel Fuertes, Valentín Pérez, Benavides, Julio, Arranz, Juan José, Laetitia Delgado, Julio Benavides, Pérez Pérez, Valentín, Ferreras, Mª del Carmen, M Ferreras, Aroa Suárez-Vega, Juan Arranz   +13 more
core   +1 more source

EEG and neuroimaging correlations in children with lissencephaly

, 2013
PurposeTo study the usefulness of EEG in the diagnosis of lissencephaly, a rare cortical developmental disorder associated with abnormal cellular proliferation.
Menascu, S., Hoffman, H., Cortez, M.A., Farooq, O., Weinstock, A.   +4 more
core   +1 more source