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Feb 18, 2017
Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K
CLINICAL CHARACTERISTICS: Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset global developmental delay, intellectual disability, absent to li...
Feb 17, 2017
Derakhshan I
The novel concept explored in this case series is the primacy of headaches in generating seizures in those patients who suffer from migraine-triggered epilepsy. In this series, once the migraine headaches were fully su...
Feb 16, 2017
Ozdemir R, Kucuk M, Guzel O, Karadeniz C, Yilmaz U, Mese T
OBJECTIVE: The ketogenic diet (KD) has been referred to as an "effective therapy with side effects" for children with intractable epilepsy. Among the most recognized adverse effects, there are cardiac conduction abnorm...
Feb 16, 2017
Joshi C, Kolbe DL, Mansilla MA, Mason S, Smith RJ, Campbell CA
We describe the presentation and workup of two brothers with early-onset epileptic encephalopathy who became seizure-free on a ketogenic diet. Extensive testing culminated in whole exome sequencing, which led to the di...
Feb 15, 2017
Fukuoka M, Kuki I, Kawawaki H, Okazaki S, Kim K, Hattori Y, Tsuji H, Nukui M, Inoue T, Yoshida Y, Uda T, Kimura S, Mogami Y, Suzuki Y, Okamoto N, Saitsu H, Matsumoto N
The KCNT1 gene encodes the sodium-dependent potassium channel, with quinidine being a partial antagonist of the KCNT1 channel. Gain-of-function KCNT1 mutations cause early onset epileptic encephalopathies including mig...
Feb 14, 2017
Ni FF, Li CR, Liao JX, Wang GB, Lin SF, Xia Y, Wen JL
PURPOSE: The ketogenic diet (KD) is an effective treatment for intractable epilepsy (IE), however the therapeutic mechanism is still unclear. This study was designed to investigate T helper type 17/regulatory T cell (T...
Feb 13, 2017
Naima C, Luis B, Luis H, Pedro R
The ketogenic diet (KD) is acknowledged as an unconventional option in the treatment of epilepsy. Several lines of investigation point to a possible role of glutamate and gamma-aminobutyric acid (GABA) as main contribu...
Feb 12, 2017
Lin A, Turner Z, Doerrer SC, Stanfield A, Kossoff EH
BACKGROUND: Many centers still admit children for several days to start the ketogenic diet. The exact incidence of adverse effects during the admission and their potential later impact on seizure reduction has not been...
Feb 10, 2017
Fung EL, Chang SK, Yam KK, Yau PY
Feb 9, 2017
Miao P, Peng J, Chen C, Gai N, Yin F
Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refra...