Results 81 to 90 of about 8,041 (202)

Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly

eLife, 2020
Type I lissencephaly is a neuronal migration disorder caused by haploinsuffiency of the PAFAH1B1 (mouse: Pafah1b1) gene and is characterized by brain malformation, developmental delays, and epilepsy.
Tyler G Ekins, Vivek Mahadevan, Yajun Zhang, James A D'Amour, Gülcan Akgül, Timothy J Petros, Chris J McBain   +6 more
doaj   +1 more source

Lizensefali Tip 1'in eşlik ettiği dikkat eksikliği ve hiperaktivite bozukluğu

Sakarya Tıp Dergisi, 2012
Dikkat Eksikliği Hiperaktivite Bozukluğu (DEHB) dikkatsizlik, dikkat dağınıklığı, yerinde duramama,aşırı hareketlilik, dürtüsellik ile karakterizedir. DEHB'de beyinde yapısal ve fonksiyonel değişikliklerin olduğuna dair kanıtlar vardır.
Dilcan Kotan, İsmet Kırpınar, Tülin Fidan   +2 more
doaj   +1 more source

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

Lissencephaly Type III Syndrome

, 1996
Arthrogryposis multiplex congenita (AMC), called fetal akinesia sequence (FAS) in this study of 5 lethal cases, was associated with a distinctive neuropathological pattern, named type III lissencephaly syndrome, as reported from the Hopital Henri Mondor,
J Gordon Millichap
core   +1 more source

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

, 2008
Mutations in the α-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a specific combination of features.
Martin, P., van der Knaap, M.S., Lachmeijer, A.M.A., Lachmeijer, AMA, Omran, H, Martins, M., Zeschnigk, C., Kuechler, A., Schuierer, G, Haug, V., Uyanik, G., Omran, H., Zeschnigk, C, Kutsche, K, Kraus, U., Morris‐Rosendahl, DJ, Morris-Rosendahl, D.J., Najm, J., Kraus, U, Kuechler, A, Santos, M., Schuierer, G., Van der Knaap, MS, Sztriha, L., Martins, M, Vasconcelos, C, Kutsche, K., Haug, V, Uyanik, G, Santos, M, Vasconcelos, C., Najm, J, Sztriha, L, Martin, P, Vasconcelos, Christina, Martin, Peter, Knaap, Marjo S. van der, Kuechler, Alma, Zeschnigk, Christine, Sztriha, László, Kutsche, Kerstin, Kraus, Uwe, Morris-Rosendahl, Deborah J., Omran, Heymut, Uyanik, Gökhan, Haug, Verena, Lachmeijer, A. M.   +46 more
core   +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

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

SEVERE SEMILOBAR HOLOPROSENCEPHALY AND LISSENCEPHALY ASSOCIATED WITH CEBOCEPHALY IN A NEWBORN

, 2012
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn: Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly.
Yurttutan, N., Oguz, S. S., Yurttutan, S., Dilmen, U., Canpolat, F. E., Oncel, M. Y., Ozdemir, R., Erdeve, O.   +7 more
core  

Lissencephaly [PDF]

, 2020
  +5 more sources

Cobblestone lissencephaly with normal eyes and muscle

, 1996
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The diagnostic criteria for all three require the presence of
Blanton, S H, Northrup, H, Dobyns, W B, Stratton, R F, Patton, M A, Mastrobattista, J M   +5 more
core   +1 more source